Pubmed du 20/04/20

lundi 20 avril 2020

1. Beauchamp MLH, Rezzonico S, MacLeod AAN. Bilingualism in School-Aged Children with ASD : A Pilot Study. J Autism Dev Disord. 2020.

Preschool-aged bilingual children with autism spectrum disorder (ASD) can keep pace with their monolingual peers with ASD. However, can older children with ASD continue to do so as language demands become greater ? Also, can they reach language levels similar to those of neurotypically developing (ND) bilingual children ? The current study compares the language abilities of 3 school-aged bilingual children with ASD to those of 2 monolingual peers, and 19 ND bilingual and 12 ND monolingual peers. Using cluster analyses, we found that bilingual children with ASD had similar language to those of monolingual children with ASD and neurotypically developing bilingual and monolingual children. Results suggest that bilingual children with ASD can keep pace with their peers with similar intellectual abilities.

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2. Bullen JC, Swain Lerro L, Zajic M, McIntyre N, Mundy P. A Developmental Study of Mathematics in Children with Autism Spectrum Disorder, Symptoms of Attention Deficit Hyperactivity Disorder, or Typical Development. J Autism Dev Disord. 2020.

This study examined mathematics achievement in school-aged children with autism spectrum disorder (ASD), symptoms of attention-deficit/hyperactivity disorder (ADHD), or typical development (TD) over a 30-month period and the associations between cognitive and reading abilities with mathematics achievement in children with ASD. Seventy-seven children with ASD without intellectual disability (ASD-WoID), 39 children with ADHD, and 43 children with TD participated in this study. The results revealed that the ASD-WoID and ADHD samples displayed significant and comparable delays in problem solving and calculation abilities. Lower VIQ was related to lower math achievement across all subgroups. The ASD-WoID sample differed from comparison samples in terms of their pattern of mathematical achievement and the role of cognitive abilities in the development of mathematics competence.

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3. Burke MM, Rios K, Aleman-Tovar J, Lee CE, Arnold CK, Owen A. Exploring the nature and correlates of caregiving among parents of adults with intellectual and developmental disabilities. J Appl Res Intellect Disabil. 2020.

BACKGROUND : As adults with intellectual and developmental disabilities (IDD) have longer lives, parents may remain caregivers into old age. In addition, it is unknown who will fulfil caregiving roles after parents are no longer able to be caregivers. In the current study, we explored the nature (e.g. number of hours of caregiving) and correlates of parental caregiving for their adult offspring with intellectual and developmental disabilities and their future caregiving plans. METHOD : In the United States, data were collected from 334 parents of adults with intellectual and developmental disabilities via a national survey. RESULTS : Altogether, 55% of the sample spent more than 15 hr conducting caregiving per week. Individual characteristics (e.g. maladaptive behaviour and functional abilities) and parent characteristics (e.g. physical proximity of the adult with intellectual and developmental disabilities and caregiving ability) positively correlated with caregiving hours. Notably, 38.58% of participants were unsure who would fulfil caregiving roles. CONCLUSION : Implications for research about caregiving and practice are discussed.

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4. Christakis DA. Early Media Exposure and Autism Spectrum Disorder : Heat and Light. JAMA Pediatr. 2020.

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5. Coleman-Fountain E, Buckley C, Beresford B. Improving mental health in autistic young adults : a qualitative study exploring help-seeking barriers in UK primary care. The British journal of general practice : the journal of the Royal College of General Practitioners. 2020.

BACKGROUND : Autistic people are at increased risk of developing mental health problems. To reduce the negative impact of living with autism in a non-autistic world, efforts to improve take-up and access to care, and support in early years, which will typically start with a GP appointment, must be grounded in the accounts of autistic young adults. AIM : To explore how autistic young adults understand and manage mental health problems ; and to consider help seeking as a focus. DESIGN AND SETTING : A cross-sectional, qualitative study. Autistic participants were purposively selected to represent a range of mental health conditions including anxiety and depression. A subsample were recruited from a population cohort screened for autism in childhood. The study concerns access to primary care. METHOD : Nineteen autistic young adults without learning disabilities, aged 23 or 24 years, were recruited. In-depth, semi-structured interviews explored how they understood and managed mental health problems. Data were analysed thematically. RESULTS : Young adults preferred self-management strategies. Multiple factors contributed to a focus on self-management, including : beliefs about the aetiology of mental health difficulties and increased vulnerability with the context of a diagnosis of autism, knowledge of self-management, and a view that formal support was unavailable or inadequate. Families had limited awareness of professional support. CONCLUSION : Young autistic adults without learning disabilities, and their families, may hold erroneous beliefs about autism and mental health. This may affect help seeking and contribute to an exacerbation of symptoms. GPs need to be alert to the fact that autistic young adults in their care may be experiencing mental health difficulties but may not recognise them as such.

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6. Deng L, Rattadilok P. The need for and barriers to using assistive technologies among individuals with Autism Spectrum Disorders in China. Assistive technology : the official journal of RESNA. 2020.

A large number of people in China have been affected by Autism Spectrum Disorders (ASDs). However, different factors associated with current barriers to accessing external support by ASD individuals in China have been identified. Assistive technologies are believed to help address the barriers. To obtain an in-depth understanding of the need and barriers of Chinese individuals with ASD in using assistive technologies, this study surveyed parents of ASD children, ASD professionals, as well as technology developers in the field. This study found that people in China have lower awareness and utilization of assistive technologies but similar demands for technologies when compared to those in the United Kingdom. Monitoring and informing systems, therapeutic recommendation systems and social skill training applications are major forms of assistive technologies desired by the participants in the interviews. Concerns about affordability, public exposure, confidentiality breaches and possible side-effects are considered as barriers that may prevent ASD individuals in China from using assistive technologies. The paper further discussed potential orientations of assistive technology development in China. Considering Chinese individuals may suffer intense stigma and heavy financial burden on mental disabilities, affordable mobile applications that help reduce the stigma would be more acceptable by Chinese ASD individuals.

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7. Duan X, Wang R, Xiao J, Li Y, Huang X, Guo X, Cao J, He L, He C, Ling Z, Shan X, Chen H, Kang X, Chen H. Subcortical structural covariance in young children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2020 ; 99 : 109874.

Abnormalities in the structure of subcortical regions are central to numerous behaviors affected by autism spectrum disorder (ASD), and these regions may undergo atypical coordinated neurodevelopment. However, relatively little is known about morphological correlations among subcortical structures in young children with ASD. In this study, using volumetric-based methodology and structural covariance approach, we investigated structural covariance of subcortical brain volume in 40 young children with ASD (<7.5 years old) and 38 age-, gender-, and handedness-matched typically developing (TD) children. Results showed that compared with TD children, children with ASD exhibited decreased structural covariation between the left and right cerebral hemispheres, specifically between the left and right thalami, right globus pallidus and left nucleus accumbens, and left globus pallidus and right nucleus accumbens. Compared with TD children, children with ASD exhibited increased structural covariation between adjacent regions, such as between the right globus pallidus and right putamen. Additionally, abnormalities in subcortical structural covariance can predict social communication and repetitive and stereotypic behavior in young children with ASD. Overall, these results suggest decreased long-range structural covariation and enhanced local covariation in subcortical structures in children with ASD, highlighting aberrant developmental coordination or synchronized maturation between subcortical regions that play crucial roles in social cognition and behavior in ASD.

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8. Griffiths KK, Wang A, Wang L, Tracey M, Kleiner G, Quinzii CM, Sun L, Yang G, Perez-Zoghbi JF, Licznerski P, Yang M, Jonas EA, Levy RJ. Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2020.

Fragile X syndrome (FXS) is the leading known inherited intellectual disability and the most common genetic cause of autism. The full mutation results in transcriptional silencing of the Fmr1 gene and loss of fragile X mental retardation protein (FMRP) expression. Defects in neuroenergetic capacity are known to cause a variety of neurodevelopmental disorders. Thus, we explored the integrity of forebrain mitochondria in Fmr1 knockout mice during the peak of synaptogenesis. We found inefficient thermogenic respiration due to futile proton leak in Fmr1 KO mitochondria caused by coenzyme Q (CoQ) deficiency and an open cyclosporine-sensitive channel. Repletion of mitochondrial CoQ within the Fmr1 KO forebrain closed the channel, blocked the pathological proton leak, restored rates of protein synthesis during synaptogenesis, and normalized the key phenotypic features later in life. The findings demonstrate that FMRP deficiency results in inefficient oxidative phosphorylation during the neurodevelopment and suggest that dysfunctional mitochondria may contribute to the FXS phenotype.

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9. Heffler KF, Sienko DM, Subedi K, McCann KA, Bennett DS. Association of Early-Life Social and Digital Media Experiences With Development of Autism Spectrum Disorder-Like Symptoms. JAMA Pediatr. 2020.

Importance : Despite growing evidence that parent-child interactions and time viewing digital media affect child development, these factors have rarely been studied in association with autism spectrum disorder (ASD) symptoms. Objective : To determine the association of experiential factors, including social activities and screen viewing in the first 18 months of life, perinatal factors, and demographic factors, with ASD-like symptoms and risk on the Modified Checklist for Autism in Toddlers (M-CHAT) at 2 years. Design, Setting, and Participants : Data for this cohort study were derived from the National Children’s Study, a US multicenter epidemiological study of environmental influences on child health and development. A total of 2152 children were enrolled at birth from October 1, 2010, to October 31, 2012. Data were analyzed from December 1, 2017, to December 3, 2019. Exposures : Caregivers reported whether the child viewed television and/or videos (yes or no) at 12 months of age, hours of viewing at 18 months of age, time spent by the caregiver reading to the child (number of days per week compared with daily) at 12 months of age, and frequency of playing with the child (daily or less than daily) at 12 months of age. Prematurity, maternal age at birth, child sex, household income, race/ethnicity, and caregiver English-language status were included in analysis. Main Outcomes and Measures : Significant association of exposures with ASD risk by M-CHAT and/or ASD-like symptoms assessed by revised M-CHAT (M-CHAT-R) total score in multiple regression models. Results : Among the 2152 children included in the analysis (1099 boys [51.1%]), television and/or video viewing (yes or no) at 12 months of age was significantly associated with greater ASD-like symptoms at 2 years of age (change, 4.2% ; 95% CI, 0.1%-8.3%) but not with ASD risk (risk prevalence rates, 8.3% vs 4.4% ; adjusted odds ratio [AOR], 1.40 ; 95% CI, 0.86-2.29). Similarly, parent-child play daily compared with less than daily was significantly associated with fewer ASD-like symptoms at 2 years of age (change, -8.9% ; 95% CI, -16.5% to -0.9%) but not with ASD risk (risk prevalence rates, 6.4% vs 14.0% ; AOR, 0.58 ; 95% CI, 0.31-1.08). However, high screen viewing at 18 months of age was not significantly associated with ASD-like symptoms (change, 10.7% ; 95% CI, -2.0% to 23.0%) or ASD risk by M-CHAT (AOR, 1.18 ; 95% CI, 0.56-2.49) at 2 years of age. Conclusions and Relevance : This cohort study found greater screen exposure and less caregiver-child play early in life to be associated with later ASD-like symptoms. Further research is needed to evaluate experiential factors for potential risk or protective effects in ASD.

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10. Kaat AJ, Shui AM, Ghods SS, Farmer CA, Esler AN, Thurm A, Georgiades S, Kanne SM, Lord C, Kim YS, Bishop SL. Sex differences in scores on standardized measures of autism symptoms : a multisite integrative data analysis. J Child Psychol Psychiatry. 2020.

BACKGROUND : Concerns have been raised that scores on standard measures of autism spectrum disorder (ASD) symptoms may differ as a function of sex. However, these findings are hindered by small female samples studied thus far. The current study evaluated if, after accounting for age, IQ, and language level, sex affects ASD severity estimates from diagnostic measures among children with ASD. METHODS : Data were obtained from eight sources comprising 27 sites. Linear mixed-effects models, including a random effect for site, were fit for 10 outcomes (Autism Diagnostic Observation Schedule [ADOS] domain-level calibrated severity scores, Autism Diagnostic Interview-Revised [ADI-R] raw scores by age-based algorithm, and raw scores from the two indices on the Social Responsiveness Scale [SRS]). Sex was added to the models after controlling for age, NVIQ, and an indicator for language level. RESULTS : Sex significantly improved model fit for half of the outcomes, but least square mean differences were generally negligible (effect sizes [ES] < 0.20), increasing to small to moderate in adolescence (ES < 0.40). Boys received more severe RRB scores than girls on both the ADOS and ADI-R (age 4 + algorithm), and girls received more severe scores than boys on both SRS indices, which emerged in adolescence. CONCLUSIONS : This study combined several available databases to create the largest sample of girls with ASD diagnoses. We found minimal differences due to sex beyond other known influences on ASD severity indicators. This may suggest that, among children who ultimately receive a clinical ASD diagnosis, severity estimates do not systematically differ to such an extent that sex-specific scoring procedures would be necessary. However, given the limitations inherent in clinically ascertained samples, future research must address questions about systematic sex differences among children or adults who do not receive clinical diagnoses of ASD. Moreover, while the current study helps resolve questions about widely used diagnostic instruments, we could not address sex differences in phenotypic aspects outside of these scores.

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11. Palese A, Conforto L, Meloni F, Bordei V, Domenighini A, Bulfone E, Grassetti L, Gonella S. Assessing pain in children with autism spectrum disorders : findings from a preliminary validation study. Scandinavian journal of caring sciences. 2020.

AIMS : Assessing pain in children with autism spectrum disorders (ASDs) can be extremely challenging, since many cannot self-report pain. This study aims to test the validity of the Non-Communicating Children’s Pain Checklist - Revised (NCCPC-R) in identifying pain in children and adolescents affected by ASDs. MATERIALS AND METHODS : A two-phase validation study based on (a) the translation and cultural adaptation of the NCCPC-R to Italian and to ASD-specific needs and context ; and (b) the validation of a modified, 32-item version of the NCCPC-R. In all, 141 carers of children aged 6-16 years with ASDs were asked to recall an in-pain episode and a not-in-pain episode of their child and to rate on a 3-point scale (0 = not at all, 3 = very often) each behaviour included in the tool. Internal consistency (Cronbach’s alpha), explorative and confirmative factorial structure, as well as concurrent and discriminant validity, were all assessed. RESULTS : Confirmatory factor analysis established the revised version of the NCCPC-R for children with ASDs (named = NCCPC-RASD ), formed from 10 of the original 30 items categorised into three factors (’Changing in mood’, ’Increasing in tension’ and ’Alerting reaction’) to have an acceptable level of reliability. The tool was internally consistent (alpha = 0.741 during in-pain episodes, alpha = 0.790 during not-in-pain episodes) and was able to discriminate between in-pain episodes (13.36 out of 40 ; CI 95% 12.34-14.39) and not-in-pain episodes (7.84 out of 40 ; CI 95% 6.86-8.82, p < 0.001). CONCLUSIONS : These results provide preliminary evidence that the 10-item version of the NCCPC-RASD is a reliable and valid tool for assessing pain in children with ASD.

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12. Parikh C, Iosif AM, Ozonoff S. Correction to : Brief Report : Use of the Infant-Toddler Checklist in Infant Siblings of Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The original version of the article unfortunately contained a mistake in the Results and Discussion section.

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13. Seernani D, Damania K, Ioannou C, Penkalla N, Hill H, Foulsham T, Kingstone A, Anderson N, Boccignone G, Bender S, Smyrnis N, Biscaldi M, Ebner-Priemer U, Klein C. Visual search in ADHD, ASD and ASD + ADHD : overlapping or dissociating disorders ?. Eur Child Adolesc Psychiatry. 2020.

Recent debates in the literature discuss commonalities between Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) at multiple levels of putative causal networks. This debate requires systematic comparisons between these disorders that have been studied in isolation in the past, employing potential markers of each disorder to be investigated in tandem. The present study, choose superior local processing, typical to ASD, and increased Intra-Subject Variability (ISV), typical to ADHD, for a head-to-head comparison of the two disorders, while also considering the comorbid cases. It directly examined groups of participants aged 10-13 years with ADHD, ASD with (ASD+) or without (ASD-) comorbid ADHD and a typically developing (TD) group (total N = 85). A visual search task consisting of an array of paired words was designed. The participants needed to find the specific pair of words, where the first word in the pair was the cue word. This visual search task was selected to compare these groups on overall search performance and trial-to-trial variability of search performance (i.e., ISV). Additionally, scanpath analysis was also carried out using Recurrence Quantification Analysis (RQA) and the Multi-Match Model. Results show that only the ASD- group exhibited superior search performance ; whereas, only the groups with ADHD symptoms showed increased ISV. These findings point towards a double dissociation between ASD and ADHD, and argue against an overlap between ASD and ADHD.

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14. Srinivasan S, Bhat A. Differences in caregiver behaviors of infants at-risk for autism and typically developing infants from 9 to 15 months of age. Infant Behav Dev. 2020 ; 59 : 101445.

During an object sharing paradigm, we compared infant-caregiver interactions between two groups : i) infants at high-risk (HR) for being diagnosed with Autism Spectrum Disorder (ASD) and ii) low-risk (LR) infants, observed at 9, 12, and 15 months of age. 16 HR infants (14 infants with an older sibling diagnosed with ASD and 2 preterm infants that received a diagnosis of ASD at 2 years) and 16 LR infants (typically developing infants without older siblings diagnosed with ASD) were included in the study. At each visit, infants played with objects in the presence of their caregivers as crawlers or walkers. Previously, we found that HR infants are less likely to share their object play with caregivers at walker ages. The present study found that caregivers of HR infants used greater directive bids including being more proximal to infants and using greater verbal and non-verbal bids to sustain their infant’s attention and to ensure their compliance during the task compared to caregivers of LR infants. Our study emphasizes the bidirectional and dynamic nature of infant-caregiver interactions. Our findings have implications for caregiver training programs that teach parents appropriate strategies to promote early social communication skills in at-risk infants.

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15. Statter MB, Noritz G. Children With Intellectual and Developmental Disabilities as Organ Transplantation Recipients. Pediatrics. 2020.

The demand for transplantable solid organs far exceeds the supply of deceased donor organs. Patient selection criteria are determined by individual transplant programs ; given the scarcity of solid organs for transplant, allocation to those most likely to benefit takes into consideration both medical and psychosocial factors. Children with intellectual and developmental disabilities have historically been excluded as potential recipients of organ transplants. When a transplant is likely to provide significant health benefits, denying a transplant to otherwise eligible children with disabilities may constitute illegal and unjustified discrimination. Children with intellectual and developmental disabilities should not be excluded from the potential pool of recipients and should be referred for evaluation as recipients of solid organ transplants.

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16. Wang J, Zhang L, Wang Q, Chen L, Shi J, Chen X, Li Z, Shen D. Multi-Class ASD Classification Based on Functional Connectivity and Functional Correlation Tensor via Multi-Source Domain Adaptation and Multi-View Sparse Representation. IEEE transactions on medical imaging. 2020.

The resting-state functional magnetic resonance imaging (rs-fMRI) reflects functional activity of brain regions by blood-oxygen-level dependent (BOLD) signals. Up to now, many computer-aided diagnosis methods based on rs-fMRI have been developed for Autism Spectrum Disorder (ASD). These methods are mostly the binary classification approaches to determine whether a subject is an ASD patient or not. However, the disease often consists of several sub-categories, which are complex and thus still confusing to many automatic classification methods. Besides, existing methods usually focus on the functional connectivity (FC) features in grey matter regions, which only account for a small portion of the rs-fMRI data. Recently, the possibility to reveal the connectivity information in the white matter regions of rs-fMRI has drawn high attention. To this end, we propose to use the patch-based functional correlation tensor (PBFCT) features extracted from rs-fMRI in white matter, in addition to the traditional FC features from gray matter, to develop a novel multi-class ASD diagnosis method in this work. Our method has two stages. Specifically, in the first stage of multi-source domain adaptation (MSDA), the source subjects belonging to multiple clinical centers (thus called as source domains) are all transformed into the same target feature space. Thus each subject in the target domain can be linearly reconstructed by the transformed subjects. In the second stage of multi-view sparse representation (MVSR), a multi-view classifier for multi-class ASD diagnosis is developed by jointly using both views of the FC and PBFCT features. The experimental results using the ABIDE dataset verify the effectiveness of our method, which is capable of accurately classifying each subject into a respective ASD sub-category.

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17. Wang Y, Li N, Yang JJ, Zhao DM, Chen B, Zhang GQ, Chen S, Cao RF, Yu H, Zhao CY, Zhao L, Ge YS, Liu Y, Zhang LH, Hu W, Zhang L, Gai ZT. Probiotics and fructo-oligosaccharide intervention modulate the microbiota-gut brain axis to improve autism spectrum reducing also the hyper-serotonergic state and the dopamine metabolism disorder. Pharmacological research. 2020 : 104784.

The prevalence of autism spectrum disorders (ASD) is increasing, but its etiology remains elusive and hence an effective treatment is not available. Previous research conducted on animal models suggests that microbiota-gut-brain axis may contribute to ASD pathology and hence more human research is needed. This study was divided into two stages, at the discovery stage, we compared the difference in gut microbiota profiles (using 16S rRNA sequencing), fecal SCFAs (using GC-MS) and plasma neurotransmitters (using UHPLC-MS/MS) of 26 children with ASD and 24 normal children. All 26 children with ASD participated in the intervention stage, and we measured the gut microbiota profiles, SCFAs and neurotransmitters before and after probiotics + FOS (n = 16) or placebo supplementation (n = 10). We found that gut microbiota was in a state of dysbiosis and significantly lower levels of Bifidobacteriales and Bifidobacterium longum were found at the discovery stage in children with ASD. An increase in beneficial bacteria (Bifidobacteriales and B. longum) and suppression of suspected pathogenic bacteria (Clostridium) emerged after probiotics + FOS intervention, with significant reduction in the severity of autism and gastrointestinal symptoms. Compared to children in the control group, significantly lower levels of acetic acid, propionic acid and butyric acid were found, and a hyperserotonergic state (increased serotonin) and dopamine metabolism disorder (decreased homovanillic acid) were observed in children with ASD. Interestingly, the above SCFAs in children with autism significantly elevated after probiotics + FOS intervention and approached that in the control group. In addition, our data demonstrated that decreased serotonin and increased homovanillic acid emerged after probiotics + FOS intervention. However, the above-mentioned changes did not appear in the placebo group for ASD children. Probiotics + FOS intervention can modulate gut microbiota, SCFAs and serotonin in association with improved ASD symptoms, including a hyper-serotonergic state and dopamine metabolism disorder.

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18. Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proceedings of the National Academy of Sciences of the United States of America. 2020.

Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit ACTL6B (originally named BAF53b). Accordingly, ACTL6B was the most significantly mutated gene in the Simons Recessive Autism Cohort. At least 14 subunits of the nBAF complex are mutated in autism, collectively making it a major contributor to autism spectrum disorder (ASD). Patient mutations destabilized ACTL6B protein in neurons and rerouted dendrites to the wrong glomerulus in the fly olfactory system. Humans and mice lacking ACTL6B showed corpus callosum hypoplasia, indicating a conserved role for ACTL6B in facilitating neural connectivity. Actl6b knockout mice on two genetic backgrounds exhibited ASD-related behaviors, including social and memory impairments, repetitive behaviors, and hyperactivity. Surprisingly, mutation of Actl6b relieved repression of early response genes including AP1 transcription factors (Fos, Fosl2, Fosb, and Junb), increased chromatin accessibility at AP1 binding sites, and transcriptional changes in late response genes associated with early response transcription factor activity. ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism.

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19. Zhao C, Liu Y, Wang Y, Li H, Zhang B, Yue Y, Zhang J. A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS. BMC neurology. 2020 ; 20(1) : 145.

BACKGROUND : Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a "premutation (PM)" in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of China who presented with rare orthostatic tremor. A review of tremor of FXTAS in the literature is also included. CASE PRESENTATION : A 67-year-old right-handed farmer started with tremor of both legs 8 years ago which was present while standing but absent when sitting or lying and progressed with unsteady gait one and a half years ago. The brain MRI showed high intensity signal in the bilateral middle cerebellar peduncles (MCP) in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images and gene test for premutation for FMR1 was positive with 101 CGG repeats. The patient met the the diagnosis of definite FXTAS. Clonazepam and topiramate were administered to control tremor. We reviewed the literature and identified 64 cases with detailed clinical and genetic information. Orthostatic tremor associated with FXTAS is very rare. We found 85.2% patients reported tremor,42.6% with intention tremor,36.1% with kinetic tremor,32.8% with rest tremor and 29.5% with posture tremor. 37.7% of patients who have tremor showed at least two types of tremor. There were 6 patients with isolated rest tremor. There was 2 patient with voice tremor and 6 with head tremor. We also found that 74.6% FXTAS patients had family history of FMR1 gene associated diseases including Fragile X syndrome (FXS), FXTAS or fragile X-associated primary ovarian insufficiency (FXPOI). CONCLUSIONS : Adding our data to the available literature suggests that orthostatic tremor could be a rare initial manifestation of FXTAS and the review will increasing our understanding the phenotype of tremor in FXTAS. Family history of FMR1 gene associated diseases might be an important clue to the diagnosis.

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