Pubmed du 14/05/20

jeudi 14 mai 2020

1. Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Human mutation. 2020 ; 41(6) : 1183.

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2. Glod M, Riby DM, Rodgers J. Sensory processing profiles and autistic symptoms as predictive factors in autism spectrum disorder and Williams syndrome. J Intellect Disabil Res. 2020.

BACKGROUND : Unusual sensory responses were included in the diagnostic criteria for autism spectrum disorder (ASD), yet they are also common among individuals with other neurodevelopmental disorders, including Williams syndrome (WS). Cross-syndrome comparisons of sensory atypicalities and the evaluation of their syndrome specificity however have rarely been undertaken. We aimed to (1) examine and compare the sensory profiles in ASD and WS groups and (2) investigate whether autistic symptoms, including sensory processing scores, can predict a group membership. METHODS : Parents of 26 children with ASD and intellectual disability, 30 parents of children with ASD (no intellectual disability) and 26 with WS aged between 4 and 16 years were recruited. Parents completed the Sensory Profile to provide information about their children’s sensory experiences and the Social Responsiveness Scale - Second Edition (SRS-2) to assess the degree of social impairment in their children. RESULTS : No significant differences were found in sensory processing scores between the three groups. Binary logistic regression analyses were undertaken with sensory quadrants and SRS-2 total score as factors. Models significantly predicted group membership, with Low Registration, Sensory Sensitivity and SRS-2 total score being significant predictors. CONCLUSIONS : The findings suggest that high rates of sensory atypicalities are a common neurodevelopmental characteristic that do not reliably distinguish between WS and ASD groups. Low Registration and Sensory Sensitivity-related behaviours might, however, be more specific to ASD. Further work is needed to explore what behaviours within sensory profiles can discriminate between neurodevelopmental disorders and should be included in diagnostic classifications.

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3. Jaswal VK, Wayne A, Golino H. Eye-tracking reveals agency in assisted autistic communication. Sci Rep. 2020 ; 10(1) : 7882.

About one-third of autistic people have limited ability to use speech. Some have learned to communicate by pointing to letters of the alphabet. But this method is controversial because it requires the assistance of another person-someone who holds a letterboard in front of users and so could theoretically cue them to point to particular letters. Indeed, some scientists have dismissed the possibility that any nonspeaking autistic person who communicates with assistance could be conveying their own thoughts. In the study reported here, we used head-mounted eye-tracking to investigate communicative agency in a sample of nine nonspeaking autistic letterboard users. We measured the speed and accuracy with which they looked at and pointed to letters as they responded to novel questions. Participants pointed to about one letter per second, rarely made spelling errors, and visually fixated most letters about half a second before pointing to them. Additionally, their response times reflected planning and production processes characteristic of fluent spelling in non-autistic typists. These findings render a cueing account of participants’ performance unlikely : The speed, accuracy, timing, and visual fixation patterns suggest that participants pointed to letters they selected themselves, not letters they were directed to by the assistant. The blanket dismissal of assisted autistic communication is therefore unwarranted.

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4. Le J, Kou J, Zhao W, Fu M, Zhang Y, Becker B, Kendrick KM. Oxytocin biases eye-gaze to dynamic and static social images and the eyes of fearful faces : associations with trait autism. Translational psychiatry. 2020 ; 10(1) : 142.

A key functional effect of intranasal oxytocin with potential therapeutic relevance for autism-spectrum disorder is its reported facilitation of attention towards social stimuli, notably the eye region of faces. In the current randomized placebo-controlled within-subject experiment on 40 healthy males, we investigated the robustness of this facilitation of attention by intranasal oxytocin (24IU) towards social cues. Eye-tracking measures of preference for dynamic and static social vs. non-social stimuli were taken in four different paradigms where autistic individuals tend to exhibit reduced interest in social stimuli. Additionally, we investigated whether oxytocin increases attention towards the eyes relative to other salient face regions in an emotional face paradigm. Results showed that the time spent viewing both dynamic and static social vs. non-social stimuli was negatively associated with trait autism and significantly increased following intranasal oxytocin. For face stimuli, oxytocin primarily increased gaze towards the eyes of fearful expression faces but not for other face emotions. Overall, our findings demonstrate that oxytocin significantly shifts gaze preference towards social vs. non-social stimuli and to the eyes of fearful faces. Importantly, oxytocin appears generally to shift attention more towards salient social stimuli of particular relevance in the context of autism providing further support for its potential therapeutic use in autism-spectrum disorder.

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5. Marsack-Topolewski CN. Quality of Life among Compound Caregivers and Noncompound Caregivers of Adults with Autism. Journal of gerontological social work. 2020 : 1-13.

Children diagnosed with autism spectrum disorder (ASD) are reaching adulthood and require some form of lifelong care. Many parents continue caring for their adult children with ASD for as long as physically possible. As parents age, many also may provide care for another loved one, such a spouse or parent. This study compares compound (those providing care for multiple loved ones) and noncompound parental caregivers (those providing care solely for an adult child with ASD) on six dimensions of quality of life (enjoys life, life is meaningful, ability to concentrate, accepts bodily appearance, satisfied with self, and frequency of negative feelings). Specifically, this study determined the extent to which compound and noncompound caregivers’ quality of life differed. The present study included 320 parents (age 50 or older) of adult children (18 or older) diagnosed with ASD who completed a web-based survey. T-tests for independent samples compared the six dimensions and overall quality of life between compound and noncompound caregivers. Results indicated that compound caregivers were less able to concentrate and had fewer negative feelings than noncompound caregivers. Further research is needed to determine the effects of caregiving on the multidimensional aspects of quality of life.

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6. McDaniel J, Yoder P, Estes A, Rogers SJ. Predicting Expressive Language From Early Vocalizations in Young Children With Autism Spectrum Disorder : Which Vocal Measure Is Best ?. Journal of speech, language, and hearing research : JSLHR. 2020 : 1-12.

Purpose This study was designed to test the incremental validity of more expensive vocal development variables relative to less expensive variables for predicting later expressive language in children with autism spectrum disorder (ASD). We devote particular attention to the added value of coding the quality of vocalizations over the quantity of vocalizations because coding quality adds expense to the coding process. We are also interested in the added value of more costly human-coded vocal variables relative to those generated through automated analyses. Method Eighty-seven children with ASD aged 13-30 months at study initiation participated. For quantity of vocalizations, we derived one variable from human coding of brief communication samples and one from an automated process for daylong naturalistic audio samples. For quality of vocalizations, we derived four human-coded variables and one automated variable. A composite expressive language measure was derived at study entry, and 6 and 12 months later. The 12 months-centered intercept of a simple linear growth trajectory was used to quantify later expressive language. Results When statistically controlling for human-coded or automated quantity of vocalization variables, human-coded quality of vocalization variables exhibited incremental validity for predicting later expressive language skills. Human-coded vocal variables also predicted later expressive language skills when controlling for the analogous automated vocal variables. Conclusion In sum, these findings support devoting resources to human coding of the quality of vocalizations from communication samples to predict later expressive language skills in young children with ASD despite the greater costs of deriving these variables. Supplemental Material

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7. Moreno-De-Luca D, Kavanaugh BC, Best CR, Sheinkopf SJ, Phornphutkul C, Morrow EM. Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample. JAMA Psychiatry. 2020.

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8. Pu Y, Yang J, Chang L, Qu Y, Wang S, Zhang K, Xiong Z, Zhang J, Tan Y, Wang X, Fujita Y, Ishima T, Wang D, Hwang SH, Hammock BD, Hashimoto K. Maternal glyphosate exposure causes autism-like behaviors in offspring through increased expression of soluble epoxide hydrolase. Proceedings of the National Academy of Sciences of the United States of America. 2020.

Epidemiological studies suggest that exposure to herbicides during pregnancy might increase risk for autism spectrum disorder (ASD) in offspring. However, the precise mechanisms underlying the risk of ASD by herbicides such as glyphosate remain unclear. Soluble epoxide hydrolase (sEH) in the metabolism of polyunsaturated fatty acids is shown to play a key role in the development of ASD in offspring after maternal immune activation. Here, we found ASD-like behavioral abnormalities in juvenile offspring after maternal exposure to high levels of formulated glyphosate. Furthermore, we found higher levels of sEH in the prefrontal cortex (PFC), hippocampus, and striatum of juvenile offspring, and oxylipin analysis showed decreased levels of epoxy-fatty acids such as 8 (9)-EpETrE in the blood, PFC, hippocampus, and striatum of juvenile offspring after maternal glyphosate exposure, supporting increased activity of sEH in the offspring. Moreover, we found abnormal composition of gut microbiota and short-chain fatty acids in fecal samples of juvenile offspring after maternal glyphosate exposure. Interestingly, oral administration of TPPU (an sEH inhibitor) to pregnant mothers from E5 to P21 prevented ASD-like behaviors such as social interaction deficits and increased grooming time in the juvenile offspring after maternal glyphosate exposure. These findings suggest that maternal exposure to high levels of glyphosate causes ASD-like behavioral abnormalities and abnormal composition of gut microbiota in juvenile offspring, and that increased activity of sEH might play a role in ASD-like behaviors in offspring after maternal glyphosate exposure. Therefore, sEH may represent a target for ASD in offspring after maternal stress from occupational exposure to contaminants.

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9. Romero-Gonzalez M, Marin E, Guzman-Parra J, Navas P, Aguilar JM, Lara JP, Barbancho MA. [Relationship between parental stress and psychological distress and emotional and behavioural problems in pre-school children with autistic spectrum disorder]. Anales de pediatria (Barcelona, Spain : 2003). 2020.

INTRODUCTION : The Autistic Spectrum Disorders (ASD) are characterised by general deficits in social communication, stereotypes, and restricted interests. The ASD have a high prevalence of additional psychiatric disorders that make their daily functioning worse, and reduces the quality of life of them and their families. MATERIAL AND METHODS : In an effort to identify family environmental characteristics that may influence in the course of additional psychiatric disorders, this study has focused on the symptoms of parental stress and psychological distress as possible risk factors. A cross-section study was carried out on the relationship between the stress and psychological distress of the parents and its relationship with co-existing psychopathology in a population of pre-school children with ASD (2-6 years). RESULTS AND CONCLUSIONS : High levels of stress and psychological distress of the parents arealready associated, since early childhood, with co-existing psychiatric symptoms, specifically with emotional and behavioural problems (p < 0.05). However, further longitudinal studies are needed for a better understanding of the causal relationship between these variables and their possible bidirectional relationship.

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10. Ross PJ, Mok RSF, Smith BS, Rodrigues DC, Mufteev M, Scherer SW, Ellis J. Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells. Mol Autism. 2020 ; 11(1) : 33.

Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to directly test the effects of genomic variation on neuronal gene expression, synapse function, and connectivity. The combined use of human pluripotent stem cells with genome editing to introduce or correct specific variants has proved to be a powerful approach for exploring the functional consequences of ASD-associated variants in protein-coding genes and, more recently, long non-coding RNAs (lncRNAs). Here, we review recent studies that implicate lncRNAs, other non-coding mutations, and regulatory variants in ASD susceptibility. We also discuss experimental design considerations for using iPSCs and genome editing to study the role of the non-protein-coding genome in ASD.

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11. Roux AM, Rast JE, Anderson KA, Garfield T, Shattuck PT. Vocational Rehabilitation Service Utilization and Employment Outcomes Among Secondary Students on the Autism Spectrum. J Autism Dev Disord. 2020.

U.S. policy interventions encourage earlier provision of Vocational Rehabilitation (VR) services to support students and youth with disabilities such as autism spectrum disorder (ASD) during the transition from school to work. We analyzed Rehabilitation Services Administration (RSA-911) data using multivariable logistic regression to determine the association of VR services receipt with employment outcomes for students ages 16-21, same-age non-student youth and young adults with ASD. Students with autism received job-related services (job search, job placement, and on-the-job supports) at rates significantly below comparison groups, even though odds of successful employment at VR exit were significantly higher if they received these services. Findings suggest that rates of employment among students with autism might be improved with intentional delivery of job-related services.

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12. Short EJ, Schindler RC, Obeid R, Noeder MM, Hlavaty LE, Gross SI, Lewis B, Russ S, Manos MM. Examining the Role of Language in Play Among Children With and Without Developmental Disabilities. Language, speech, and hearing services in schools. 2020 : 1-12.

Purpose Play is a critical aspect of children’s development, and researchers have long argued that symbolic deficits in play may be diagnostic of developmental disabilities. This study examined whether deficits in play emerge as a function of developmental disabilities and whether our perceptions of play are colored by differences in language and behavioral presentations. Method Ninety-three children participated in this study (typically developing [TD] ; n = 23, developmental language disorders [DLD] ; n = 24, attention-deficit/hyperactivity disorder [ADHD] ; n = 26, and autism spectrum disorder [ASD] ; n = 20). Children were videotaped engaging in free-play. Children’s symbolic play (imagination, organization, elaboration, and comfort) was scored under conditions of both audible language and no audible language to assess diagnostic group differences in play and whether audible language impacted raters’ perception of play. Results Significant differences in play were evident across diagnostic groups. The presence of language did not alter play ratings for the TD group, but differences were found among the other diagnostic groups. When language was audible, children with DLD and ASD (but not ADHD) were scored poorly on play compared to their TD peers. When language was not audible, children with DLD were perceived to play better than when language was audible. Conversely, children with ADHD showed organizational deficits when language was not available to support their play. Finally, children with ASD demonstrated poor play performance regardless of whether language was audible or not. Conclusions Language affects our understanding of play skills in some young children. Parents, researchers, and clinicians must be careful not to underestimate or overestimate play based on language presentation. Differential skills in language have the potential to unduly influence our perceptions of play for children with developmental disabilities.

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13. Skogli EW, Andersen PN, Isaksen J. An Exploratory Study of Executive Function Development in Children with Autism, after Receiving Early Intensive Behavioral Training. Dev Neurorehabil. 2020 : 1-9.

Objective : To examine the development of executive functions, in preschool children with autism spectrum disorders (ASD), receiving early intensive behavioral training (EIBI).Method : Executive functions (EF) were assessed with The Behavior Rating Inventory of Executive Function - Preschool Version (BRIEF-P), by parents and preschool teachers at the time of diagnostic assessment and after 15 months of EIBI intervention. Ten children with ASD (M = 2.9 years, nine males) participated in the study. Reliable Change Index scores were computed for each of the participants in order to investigate any significant change in BRIEF-P T-scores.Results : Three children showed a significant improvement in EF, based on parent ratings. Four children showed a significant improvement in EF based on preschool teacher ratings.Conclusion : Findings indicating a reliable improvement in one third of preschool children with ASD receiving EIBI are encouraging but need to be replicated in larger scale controlled studies.

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14. Smith AL, Jung EM, Jeon BT, Kim WY. Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior. Sci Rep. 2020 ; 10(1) : 7834.

Inhibitory interneurons are essential for proper brain development and function. Dysfunction of interneurons is implicated in several neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability (ID). We have previously shown that Arid1b haploinsufficiency interferes with interneuron development and leads to social, cognitive, and emotional impairments consistent with ASD and ID. It is unclear, however, whether interneurons play a major role for the behavioral deficits in Arid1b haploinsufficiency. Furthermore, it is critical to determine which interneuron subtypes contribute to distinct behavioral phenotypes. In the present study, we generated Arid1b haploinsufficient mice in which a copy of the Arid1b gene is deleted in either parvalbumin (PV) or somatostatin (SST) interneurons, and examined their ASD- and ID-like behaviors. We found that Arid1b haploinsufficiency in PV or SST interneurons resulted in distinct features that do not overlap with one another. Arid1b haploinsufficiency in PV neurons contributed to social and emotional impairments, while the gene deletion in the SST population caused stereotypies as well as learning and memory dysfunction. These findings demonstrate a critical role of interneurons in Arid1b haploinsufficient pathology and suggest that PV and SST interneurons may have distinct roles in modulating neurological phenotypes in Arid1b haploinsufficiency-induced ASD and ID.

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15. Tsai TY, Chao YC, Hsieh CY, Huang YC. Association Between Atopic Dermatitis and Risk of Autism Spectrum Disorder : A Systematic Review and Meta-analysis. Acta dermato-venereologica. 2020.

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16. van Deurs JR, McLay LK, France KG, Blampied NM. Sequential Implementation of Functional Behavior Assessment-Informed Treatment Components for Sleep Disturbance in Autism : A Case Study. Behavioral sleep medicine. 2020 : 1-19.

Background : Sleep disturbances are a significant problem for people with autism spectrum disorder (ASD). Existing research supports the use of parent-implemented, functional behavior assessment (FBA)-informed interventions for sleep problems in children with ASD. There is also emerging evidence for combined parent- and young person-implemented behavioral sleep interventions for older children and adolescents with ASD. However, the active treatment components of such interventions have not been identified in previous studies, as components have not been evaluated independently of one another.Methods : The current study sequentially implemented FBA-informed treatment components (in the order of least to most restrictive and time intensive) within a single-case AB design, to evaluate at which point treatment resulted in a statistically and clinically substantive reduction in target sleep variables. Combined parent- and young person-implemented intervention components consisted of : (a) white noise ; (b) white noise and relaxation instruction ; and (c) white noise, relaxation instruction, and stimulus control.Participant : The participant was a 9-year-old girl with autism and selective mutism.Results : The combined use of white noise, relaxation instruction, and stimulus control resolved the participant’s sleep problems. Other more restrictive and/or time intensive interventions were unnecessary. Treatment effects were maintained at 10-week follow-up.Conclusions : The current study illustrates the feasibility of administering FBA-informed treatment components sequentially, to ensure application of minimally sufficient interventions.

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17. Wang J, Poliquin S, Mermer F, Eissman J, Delpire E, Wang J, Shen W, Cai K, Li BM, Li ZY, Xu D, Nwosu G, Flamm C, Liao WP, Shi YW, Kang JQ. Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism. Molecular brain. 2020 ; 13(1) : 76.

Mutations in SLC6A1, encoding gamma-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far from clear. Here we report a novel SLC6A1 missense mutation in a patient with epilepsy and autism spectrum disorder and characterized the molecular defects of the mutant GAT-1, from transporter protein trafficking to GABA uptake function in heterologous cells and neurons. The heterozygous missense mutation (c1081C to A (P361T)) in SLC6A1 was identified by exome sequencing. We have thoroughly characterized the molecular pathophysiology underlying the clinical phenotypes. We performed EEG recordings and autism diagnostic interview. The patient had neurodevelopmental delay, absence epilepsy, generalized epilepsy, and 2.5-3 Hz generalized spike and slow waves on EEG recordings. The impact of the mutation on GAT-1 function and trafficking was evaluated by (3)H GABA uptake, structural simulation with machine learning tools, live cell confocal microscopy and protein expression in mouse neurons and nonneuronal cells. We demonstrated that the GAT-1(P361T) mutation destabilizes the global protein conformation and reduces total protein expression. The mutant transporter protein was localized intracellularly inside the endoplasmic reticulum (ER) with a pattern of expression very similar to the cells treated with tunicamycin, an ER stress inducer. Radioactive (3)H-labeled GABA uptake assay indicated the mutation reduced the function of the mutant GAT-1(P361T), to a level that is similar to the cells treated with GAT-1 inhibitors. In summary, this mutation destabilizes the mutant transporter protein, which results in retention of the mutant protein inside cells and reduction of total transporter expression, likely via excessive endoplasmic reticulum associated degradation. This thus likely causes reduced functional transporter number on the cell surface, which then could cause the observed reduced GABA uptake function. Consequently, malfunctioning GABA signaling may cause altered neurodevelopment and neurotransmission, such as enhanced tonic inhibition and altered cell proliferation in vivo. The pathophysiology due to severely impaired GAT-1 function may give rise to a wide spectrum of neurodevelopmental phenotypes including autism and epilepsy.

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18. Zhou T, Kang J, Cong F, Li DX. Early childhood developmental functional connectivity of autistic brains with non-negative matrix factorization. Neuroimage Clin. 2020 ; 26 : 102251.

Autism spectrum disorder (ASD) is associated with altered patterns of over- and under-connectivity of neural circuits. Age-related changes in neural connectivities remain unclear for autistic children as compared with normal children. In this study, a parts-based network-decomposition technique, known as non-negative matrix factorization (NMF), was applied to identify a set of possible abnormal connectivity patterns in brains affected by ASD, using resting-state electroencephalographic (EEG) data. Age-related changes in connectivities in both inter- and intra-hemispheric areas were studied in a total of 256 children (3-6 years old), both with and without ASD. The findings included the following : (1) the brains of children affected by ASD were characterized by a general trend toward long-range under-connectivity, particularly in interhemispheric connections, combined with short-range over-connectivity ; (2) long-range connections were often associated with slower rhythms (delta and theta), whereas synchronization of short-range networks tended to be associated with faster frequencies (alpha and beta) ; and (3) the alpha-band specific patterns of interhemispheric connections in ASD could be the most prominent during early childhood neurodevelopment. Therefore, NMF would be useful for further exploring the early childhood developmental functional connectivity of children aged 3-6 with ASD as well as with typical development. Additionally, long-range interhemispheric alterations in connectivity may represent a potential biomarker for the identification of ASD.

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19. Zhu JW, Zou MM, Li YF, Chen WJ, Liu JC, Chen H, Fang LP, Zhang Y, Wang ZT, Chen JB, Huang W, Li S, Jia WQ, Wang QQ, Zhen XC, Liu CF, Li S, Xiao ZC, Xu GQ, Schwamborn JC, Schachner M, Ma QH, Xu RX. Absence of TRIM32 Leads to Reduced GABAergic Interneuron Generation and Autism-like Behaviors in Mice via Suppressing mTOR Signaling. Cereb Cortex. 2020 ; 30(5) : 3240-58.

Mammalian target of rapamycin (mTOR) signaling plays essential roles in brain development. Hyperactive mTOR is an essential pathological mechanism in autism spectrum disorder (ASD). Here, we show that tripartite motif protein 32 (TRIM32), as a maintainer of mTOR activity through promoting the proteasomal degradation of G protein signaling protein 10 (RGS10), regulates the proliferation of medial/lateral ganglionic eminence (M/LGE) progenitors. Deficiency of TRIM32 results in an impaired generation of GABAergic interneurons and autism-like behaviors in mice, concomitant with an elevated autophagy, which can be rescued by treatment embryonically with 3BDO, an mTOR activator. Transplantation of M/LGE progenitors or treatment postnatally with clonazepam, an agonist of the GABAA receptor, rescues the hyperexcitability and the autistic behaviors of TRIM32-/- mice, indicating a causal contribution of GABAergic disinhibition. Thus, the present study suggests a novel mechanism for ASD etiology in that TRIM32 deficiency-caused hypoactive mTOR, which is linked to an elevated autophagy, leads to autism-like behaviors via impairing generation of GABAergic interneurons. TRIM32-/- mouse is a novel autism model mouse.

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