1. Bai M, Ye D, Guo X, Xi J, Liu N, Wu Y, Jia W, Wang G, Chen W, Li G, Jiapaer Z, Kang J. {{Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism}}. {EMBO reports}. 2020: e50283.
A microdeletion within human chromosome 5q14.3 has been associated with the occurrence of neurodevelopmental disorders, such as autism and intellectual disability, and MEF2C haploinsufficiency was identified as main cause. Here, we report that a brain-enriched long non-coding RNA, NDIME, is located near the MEF2C locus and is required for normal neural differentiation of mouse embryonic stem cells (mESCs). NDIME interacts with EZH2, the major component of polycomb repressive complex 2 (PRC2), and blocks EZH2-mediated trimethylation of histone H3 lysine 27 (H3K27me3) at the Mef2c promoter, promoting MEF2C transcription. Moreover, the expression levels of both NDIME and MEF2C were strongly downregulated in the hippocampus of a mouse model of autism, and the adeno-associated virus (AAV)-mediated expression of NDIME in the hippocampus of these mice significantly increased MEF2C expression and ameliorated autism-like behaviors. The results of this study reveal an epigenetic mechanism by which NDIME regulates MEF2C transcription and neural differentiation and suggest potential effects and therapeutic approaches of the NDIME/MEF2C axis in autism.
Lien vers le texte intégral (Open Access ou abonnement)
2. Garcia JM, Leahy N, Brazendale K, Quelly S, Lawrence S. {{Implementation of a school-based Fitbit program for youth with Autism Spectrum Disorder: A feasibility study}}. {Disability and health journal}. 2020: 100990.
BACKGROUND: School settings may be optimal for physical activity interventions for youth with Autism Spectrum Disorder (ASD). Additionally, consumer-based fitness trackers may encourage youth with ASD to increase their physical activity levels, however, no studies have examined whether a fitness tracker program would be feasible in youth with ASD. OBJECTIVE: To examine the feasibility of a 12-week school-based Fitbit© program for youth with ASD. METHODS: Six classroom teachers and their students (n = 45) were provided with Fitbit fitness trackers to wear over 12-weeks. Classroom teachers monitored student tracker use and completed open-ended surveys to describe both their experience and their students’ experience with the fitness trackers. RESULTS: Out of the 45 eligible students, 42 (94%) opted to participate in the study. All six teachers and 32 (76%) of the 42 students wore the fitness tracker daily over 12 weeks. Teachers reported that students were most interested in tracking their daily steps, and the short batter life, and account set-up were the biggest challenges to students. All six teachers felt that this program could have long-term sustainability, especially if tracker use could be incorporated into school curriculum and classroom activities. CONCLUSIONS: A school-based Fitbit program appears to be both feasible, and well-accepted by students with ASD. Future work should evaluate the preliminary efficacy of this type of program.
Lien vers le texte intégral (Open Access ou abonnement)
3. Gui A, Mason L, Gliga T, Hendry A, Begum Ali J, Pasco G, Shephard E, Curtis C, Charman T, Johnson MH, Meaburn E, Jones EJH. {{Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD}}. {Development and psychopathology}. 2020: 1-20.
Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (β = 0.078, p = .023), but not ASD (β = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, $eta _p^2$=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation.
Lien vers le texte intégral (Open Access ou abonnement)
4. Inthikoot N, Chonchaiya W. {{Sleep problems in children with autism spectrum disorder and typical development}}. {Pediatrics international : official journal of the Japan Pediatric Society}. 2020.
BACKGROUND: Although higher sleep problems were mostly reported in children with autism spectrum disorder (ASD) compared with typically developing (TD) children, particularly in Western countries, such evidence is relatively scarce in developing countries. We therefore investigated sleep difficulties in Thai children aged 3-16 years with ASD compared with age- and gender-matched TD children by using the Children’s Sleep Habits Questionnaire (CSHQ)-Thai version. METHODS: Sixty-five children with ASD (mean age 97.7, SD 44.5 months; boys 70.8%) and 65 TD individuals (mean age 98.5, SD 43.5 months) were enrolled at a university-based hospital in Bangkok. Background characteristics, sleep duration variables, and the CSHQ were completed by participants’ parents. The CSHQ subscales and total score between children with ASD and TD controls were then compared. RESULTS: Children with ASD were more likely to have longer sleep latency than TD individuals for both weekdays and the weekend. Those with ASD had higher CSHQ subscales including bedtime resistance, sleep onset delay, sleep anxiety, and night waking in addition to the CSHQ total scores than TD controls. In the ASD group, those who took psychostimulants for treatment of ADHD had lower problems in sleep duration subscale compared with unmedicated individuals. CONCLUSIONS: Sleep difficulties were more prevalent in children with ASD compared with TD individuals. Parents should be advised to be aware of sleep problems in individuals with ASD. As such, sleep disturbances will be identified early, resulting in appropriate management and improved quality of life, for not only those with ASD, but also their families.
Lien vers le texte intégral (Open Access ou abonnement)
5. Mastergeorge AM, Kahathuduwa C, Blume J. {{Eye-Tracking in Infants and Young Children at Risk for Autism Spectrum Disorder: A Systematic Review of Visual Stimuli in Experimental Paradigms}}. {J Autism Dev Disord}. 2020.
Eye-tracking represents a sensitive, direct measure of gaze allocation and goal-directed looking behaviors that correspond to visual information processing. Clear definitions and standardization of research protocols to document the utility and feasibility of these methods are warranted. This systematic review provides an account of stimuli dimensions and experimental paradigms used in eye-tracking research for young children at risk for ASD published from 2005 through 2019. This review identifies variability in eye-tracking protocols and heterogeneity of stimuli used for eye-tracking as factors that undermine the value of eye-tracking as an objective, reliable screening tool. We underscore the importance of sharing eye-tracking stimuli to enhance replicability of findings and more importantly the need to develop a bank of publicly available, validated stimuli.
Lien vers le texte intégral (Open Access ou abonnement)
6. Portnova GV, Maslennikova AV. {{Atypical EEG Responses to Nonverbal Emotionally Charged Stimuli in Children with ASD}}. {Behavioural neurology}. 2020; 2020: 2807946.
This study focused on auditory emotional perception in children with low-functioning autism and investigated the children’s response to emotionally charged nonverbal sounds which regularly induced emotional response in typically developing (TD) peers. An EEG was conducted, and emotional reactions were assessed using analog scales and images of presented sounds with additional images during the presentation of emotional stimuli. The results showed that EEG and emotional responses to the fearful sounds were similar in TD children and children with autism spectrum disorders (ASD). Both groups of children showed an increase in peak alpha frequency and power of alpha2-band and a decrease in low-frequency bands. Sounds of crying and laughter induced an atypical EEG response in children with ASD, with no change in alpha-band’s power and frequency observed in them; this was contrary to the observation in TD children. The decrease in the fractal dimension detected in children with ASD only for sounds of crying and laughter correlated with the accuracy of assessment of these stimuli.
Lien vers le texte intégral (Open Access ou abonnement)
7. Zafarullah M, Jasoliya M, Tassone F. {{Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS)}}. {Cells}. 2020; 9(10).
Fragile X syndrome (FXS) is an X-linked neurodevelopmental condition associated with intellectual disability and behavioral problems due to the lack of the Fragile X mental retardation protein (FMRP), which plays a crucial role in synaptic plasticity and memory. A desirable in vitro cell model to study FXS would be one that can be generated by simple isolation and culture method from a collection of a non-invasive donor specimen. Currently, the various donor-specific cells can be isolated mainly from peripheral blood and skin biopsy. However, they are somewhat invasive methods for establishing cell lines from the primary subject material. In this study, we characterized a cost-effective and straightforward method to derive epithelial cell lines from urine samples collected from participants with FXS and healthy controls (TD). The urine-derived cells expressed epithelial cell surface markers via fluorescence-activated cell sorting (FACS). We observed inter, and the intra-tissue CGG mosaicism in the PBMCs and the urine-derived cells from participants with FXS potentially related to the observed variations in the phenotypic and clinical presentation FXS. We characterized these urine-derived epithelial cells for FMR1 mRNA and FMRP expression and observed some expression in the lines derived from full mutation mosaic participants. Further, FMRP expression was localized in the cytoplasm of the urine-derived epithelial cells of healthy controls. Deficient FMRP expression was also observed in mosaic males, while, as expected, no expression was observed in cells derived from participants with a hypermethylated full mutation.
Lien vers le texte intégral (Open Access ou abonnement)
8. Zorcec T, Pop-Jordanova N. {{Main Needs and Challenges of Parents of Children with Autism Spectrum Disorder}}. {Prilozi (Makedonska akademija na naukite i umetnostite Oddelenie za medicinski nauki)}. 2020; 41(2): 81-8.
Autism spectrum disorder (ASD) comprises a group of complex lifelong neurodevelopmental disorders, characterized with symptoms related to the difficulty of communication and interaction with other people, as well as restricted interests and repetitive behaviors. These symptoms affects the person’s ability to function properly in school, work, and other areas of life. For better understanding the needs and challenges of families the survey developed by Autism Speaks in collaboration with the National Coordinators for Autism from nine Balkan countries was established. The aim of this research is to obtain an overview of some important data for children with some form of autistic disorder. The same questionnaire was used in two different periods of time (during 2015 and at the beginning of 2020) including samples of 60 and 140 parents respectively. The questionnaire comprises 57 questions in the following four domains: demographic characteristics, index child characteristics, service encounters and parent/caregiver perceptions. Results are compared and discussed. The survey results underscore that parents and families of children with ASD in our country carry a heavy burden. They face significant financial difficulties and need improved services from the health, educational and social sectors. It was concluded that there is a critical need to strengthen national capacity in caring for children, young people and adults with ASD and other neurodevelopmental disorders.
