Pubmed du 28/12/19

samedi 28 décembre 2019

1. Schauder KB, Park WJ, Tsank Y, Eckstein MP, Tadin D, Bennetto L. Initial eye gaze to faces and its functional consequence on face identification abilities in autism spectrum disorder. J Neurodev Disord ;2019 (Dec 28) ;11(1):42.

BACKGROUND : Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined and diagnosed by core deficits in social communication and the presence of restricted and repetitive behaviors. Research on face processing suggests deficits in this domain in ASD but includes many mixed findings regarding the nature and extent of these differences. The first eye movement to a face has been shown to be highly informative and sufficient to achieve high performance in face identification in neurotypical adults. The current study focused on this critical moment shown to be essential in the process of face identification. METHODS : We applied an established eye-tracking and face identification paradigm to comprehensively characterize the initial eye movement to a face and test its functional consequence on face identification performance in adolescents with and without ASD (n = 21 per group), and in neurotypical adults. Specifically, we presented a series of faces and measured the landing location of the first saccade to each face, while simultaneously measuring their face identification abilities. Then, individuals were guided to look at specific locations on the face, and we measured how face identification performance varied as a function of that location. Adolescent participants also completed a more traditional measure of face identification which allowed us to more fully characterize face identification abilities in ASD. RESULTS : Our results indicate that the location of the initial look to faces and face identification performance for briefly presented faces are intact in ASD, ruling out the possibility that deficits in face perception, at least in adolescents with ASD, begin with the initial eye movement to the face. However, individuals with ASD showed impairments on the more traditional measure of face identification. CONCLUSION : Together, the observed dissociation between initial, rapid face perception processes, and other measures of face perception offers new insights and hypotheses related to the timing and perceptual complexity of face processing and how these specific aspects of face identification may be disrupted in ASD.

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2. Muharib R, Alzrayer NM, Wood CL, Voggt AP. Backward chaining and speech-output technologies to enhance functional communication skills of children with autism spectrum disorder and developmental disabilities. Augment Altern Commun ;2019 (Dec 26):1-12.

Behavioral intervention packages in combination with speech output technologies have been utilized to develop communication skills of children with autism spectrum disorder (ASD) and other developmental disabilities. The current study aimed to extend previous research (Gevarter et al. ; Gevarter & Horan) by examining the effects of backward chaining in combination with least-to-most prompting, time delay, and differential reinforcement on the acquisition of functional communication skills. A multiple probe across participants design was used embedded with a changing criterion design. For the study, three male children with ASD or developmental disabilities and minimal vocal communication skills participated. The results indicated that the intervention was effective in increasing both iPad(1)(c)-based and vocal requesting of all participants, two of whom were able to maintain vocal requesting after the termination of intervention. Implications for future research and practice are discussed.

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3. Hodges A, Joosten A, Bourke-Taylor H, Cordier R. School participation : The shared perspectives of parents and educators of primary school students on the autism spectrum. Res Dev Disabil ;2019 (Dec 24) ;97:103550.

BACKGROUND : An international focus on the inclusion of students with disabilities in mainstream schools and the increased prevalence of autism spectrum disorder (ASD) has contributed to increasing numbers of students with ASD enrolling in mainstream schools. The school participation restrictions of adolescent students with ASD is widely researched, but less is known about the challenges faced by primary school students with ASD and how early in their schooling these challenges arise. METHODS : Focus groups were used to explore the perspectives of parents and educators on the school participation of primary school students with ASD. Focus group data were analysed thematically. RESULTS : Four themes were derived from the data : (1) more than just being there ; (2) meeting in the middle ; (3) consistency of supports ; and (4) embrace difference. CONCLUSIONS : Findings from this study highlight that students aged between 6 and 11 years experience school participation restrictions due to a range of intrinsic (e.g., sense of self and school belonging) and extrinsic factors (e.g., school culture, educator knowledge and skills). It is imperative school based interventions are developed and implemented in the early primary years, that not only target students’ skills, but the range of environmental enablers and barriers impacting student school participation.

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4. Hepach R, Hedley D, Nuske HJ. Prosocial attention in children with and without autism spectrum disorder : Dissociation between anticipatory gaze and internal arousal. J Abnorm Child Psychol ;2019 (Dec 28)

From an early age children help others yet the underlying mechanisms of children’s prosocial attention remain understudied. Comparing the attentional and physiological mechanisms of prosocial attention of typically developing and atypically developing children contributes to our understanding of the ontogeny of prosocial development. We presented typically developing (TD) children and children with Autism Spectrum Disorder (ASD), who often have difficulty developing prosocial behaviour, with scenarios in which an adult needed a dropped object to finish a task but was subsequently not helped by a second adult. In a perceptually matched non-social control scenario, children saw self-propelled objects move and drop without any adult present in the scene. Results showed a dissociation between arousal (pupil dilation) and the anticipation of the individual’s need (gaze patterns), such that only TD children looked longer at the correct solution to the adult’s need prior to the resolution of the situation. In contrast, following the resolution of the scene, both groups showed greater arousal when the adult was not helped compared to when the non-social situation remained unresolved. For the ASD group, this effect was greatest for children with higher developmental quotients. These results suggest that, despite similarities in prosocial attention between TD and ASD children, previously documented reduced prosocial behaviour in children with ASD may be in part due to a specific impairment in anticipating prosocial behaviour.

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5. Graef JD, Wu H, Ng C, Sun C, Villegas V, Qadir D, Jesseman K, Warren ST, Jaenisch R, Cacace A, Wallace O. Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons. Eur J Neurosci ;2019 (Dec 26)

Fragile X Syndrome (FXS) is the most common genetic form of intellectual disability caused by a CGG repeat expansion in the 5’-UTR of the Fragile X mental retardation gene FMR1, triggering epigenetic silencing and the subsequent absence of the protein, FMRP. Reactivation of FMR1 represents an attractive therapeutic strategy targeting the genetic root cause of FXS. However, largely missing in the FXS field is an understanding of how much FMR1 reactivation is required to rescue FMRP-dependent mutant phenotypes. Here, we utilize FXS patient derived excitatory neurons to model FXS in vitro and confirm that the absence of FMRP leads to neuronal hyperactivity. We further determined the levels of FMRP and the percentage of FMRP positive cells necessary to correct this phenotype utilizing a mixed and mosaic neuronal culture system and a combination of CRISPR, antisense and expression technologies to titrate FMRP in FXS and WT neurons. Our data demonstrate that restoration of greater than 5% of overall FMRP expression levels or greater than 20% FMRP expressing neurons in a mosaic pattern is sufficient to normalize a FMRP-dependent, hyperactive phenotype in FXS iPSC-derived neurons.

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6. Baker EK, Arpone M, Vera SA, Bretherton L, Ure A, Kraan CM, Bui M, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field MJ, Cohen J, Maria LS, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome. J Neurodev Disord ;2019 (Dec 26) ;11(1):41.

BACKGROUND : Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM : CGG >/= 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM : CGG 55-199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. METHODS : This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only ; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. RESULTS : Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. CONCLUSIONS : Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS.

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