Pubmed du 25/06/20

jeudi 25 juin 2020

1. Ames JL, Massolo ML, Davignon MN, Qian Y, Croen LA. Healthcare service utilization and cost among transition-age youth with autism spectrum disorder and other special healthcare needs. Autism ;2020 (Jun 25):1362361320931268.

Youth with autism spectrum disorder often have complex medical needs. Disruptions of healthcare during the transition from pediatric to adult healthcare may put youth with autism spectrum disorder at higher risk of medical emergencies and high medical costs. To understand healthcare utilization during the transition years, we conducted a study among transition-age youth (14-25 years old) receiving healthcare at Kaiser Permanente Northern California during 2014-2015. We examined differences in healthcare utilization and costs among youth with autism spectrum disorder (n = 4123), attention deficit and hyperactivity disorder (n = 20,6015), diabetes mellitus (n = 2156), and general population controls (n = 20,615). Analyses were also stratified by age and sex. Youth with autism spectrum disorder had the highest utilization of outpatient primary care, mental health, and psychotropic medications and the lowest utilization of obstetrics/gynecology and urgent care. Costs for youth with autism spectrum disorder were higher than those for attention deficit and hyperactivity disorder and general population peers and lower than for diabetes mellitus. Healthcare utilization patterns varied by age. Transition-age youth with autism spectrum disorder generally used healthcare at higher rates relative to attention deficit and hyperactivity disorder and general population peers but at similar or lower rates than diabetes mellitus peers, indicating this group’s complex combination of psychiatric and medical healthcare needs. The relatively high utilization of psychiatric services and low utilization of women’s health services in transition-age youth with autism spectrum disorder may have implications for long-term health and warrants additional research.

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2. Andreou M, Skrimpa V. Theory of Mind Deficits and Neurophysiological Operations in Autism Spectrum Disorders : A Review. Brain Sci ;2020 (Jun 20) ;10(6)

Theory of Mind (ToM) is a multifaceted skill set which encompasses a variety of cognitive and neurobiological aspects. ToM deficits have long been regarded as one of the most disabling features in individuals with Autism Spectrum Disorder. One of the theories that attempts to account for these impairments is that of "broken mirror neurons". The aim of this review is to present the most recent available studies with respect to the connection between the function of mirror neurons in individuals with ASD and ToM-reflecting sensorimotor, social and attentional stimuli. The majority of these studies approach the theory of broken mirror neurons critically. Only studies from the last 15 years have been taken into consideration. Findings from electroencephalography (EEG) studies so far indicate that further research is necessary to shed more light on the mechanisms underlying the connection(s) between ToM and neurophysiological operations.

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3. Blume J, Wittke K, Naigles L, Mastergeorge AM. Language Growth in Young Children with Autism : Interactions Between Language Production and Social Communication. J Autism Dev Disord ;2020 (Jun 25)

Young children with autism spectrum disorder (ASD) present with a broad range of spoken language abilities, as well as delays in precursor skills such as gesture production and joint attention skills. While standardized assessments describe language strengths, the Communication and Symbolic Behavior Scales (CSBS-DP) is a particularly robust measure as it additionally characterizes precise aspects of social communication. This study provides a unique contribution by assessing the interactional effects of CSBS-DP Social Composite performance with early language samples on later language outcomes. Our results indicate that multiple social communication elements significantly interact with early spoken language to predict later language. Our findings also highlight the transactional relationship between early spoken vocabulary and social communication skills that bolster language development growth.

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4. Bradbury K, Robins DL, Barton M, Ibañez LV, Stone WL, Warren ZE, Fein D. Screening for Autism Spectrum Disorder in High-Risk Younger Siblings. J Dev Behav Pediatr ;2020 (Jun 17)

OBJECTIVE : Most autism spectrum disorder (ASD) screening measures have been developed for use with low-risk (LR) children ; however, measures may perform differently in high-risk (HR) younger sibling populations. The current study sought to investigate the performance of an ASD screening measure, the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), in a sample of HR younger siblings and directly compared its performance with that in an LR sample. METHODS : High-risk younger siblings (n = 187) and LR children (n = 15,848) were screened using the M-CHAT-R/F. Screen-positive children completed comprehensive evaluations. The M-CHAT-R/F psychometric properties and clinical characteristics were compared across the samples. RESULTS : The M-CHAT-R/F demonstrated a significantly higher screen-positive rate and ASD detection rate in the HR sample compared with the LR sample. Children with ASD in the HR sample had stronger verbal, nonverbal, and overall cognitive abilities compared with children with ASD in the LR sample despite comparable ASD severity and adaptive functioning. High positive predictive value of the M-CHAT-R at initial screen, with only incremental change after Follow-Up, suggests that Follow-Up is less critical in HR than LR samples. A significantly lower number of changed responses during Follow-Up further supports improved reporting accuracy of parents with ASD experience compared with parents less familiar with ASD. CONCLUSION : The findings suggest that the M-CHAT-R/F can distinguish between ASD and non-ASD at 18 to 24 months in an HR sibling sample, with performance comparable with or better than its performance in the general population.

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5. Cabal-Herrera AM, Tassanakijpanich N, Salcedo-Arellano MJ, Hagerman RJ. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) : Pathophysiology and Clinical Implications. Int J Mol Sci ;2020 (Jun 20) ;21(12)

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55-200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 60 s with an action or intention tremor followed by cerebellar ataxia, although 20% have only ataxia. MRI features include brain atrophy and white matter disease, especially in the middle cerebellar peduncles, periventricular areas, and splenium of the corpus callosum. Neurocognitive problems include memory and executive function deficits, although 50% of males can develop dementia. Females can be less affected by FXTAS because of a second X chromosome that does not carry the premutation. Approximately 40% of males and 16% of female carriers develop FXTAS. Since the premutation can occur in less than 1 in 200 women and 1 in 400 men, the FXTAS diagnosis should be considered in patients that present with tremor, ataxia, parkinsonian symptoms, neuropathy, and psychiatric problems. If a family history of a fragile X mutation is known, then FMR1 DNA testing is essential in patients with these symptoms.

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6. Colombo-Dougovito AM, Blagrave AJ, Healy S. A grounded theory of adoption and maintenance of physical activity among autistic adults. Autism ;2020 (Jun 24):1362361320932444.

BACKGROUND : Although a growing body of literature has explored the physical activity experiences from the perspective of children on the autism spectrum, the perspective of autistic adults remains largely unheard. Due to this absence of perspective, there exists limited knowledge of the appropriateness and generalizability of current models and theories of physical activity for this population. METHODS : A constructivist grounded theory study was conducted to explore the experiences of adoption and maintenance of physical activity from the direct perspective of autistic adults. Autistic adults (n = 23) from the United States and the United Kingdom were recruited. RESULTS : A total of 29 codes emerged from the coding process. These codes were formed into four broad categories : (1) individual attributes ; (2) environmental factors ; (3) social relationships ; and (4) social experiences. The interconnectedness of these four categories was explored. CONCLUSIONS : The findings and presented model highlight the importance of building successful experiences for young children on the autism spectrum, so that they are more likely to continue physical activity into their adult life. Furthermore, findings emphasize the importance of creating noncompetitive, sensory-friendly physical activity experiences for autistic adults that offer flexibility in social engagement. LAY ABSTRACT : Little is known about how autistic adults experience physical activity. To begin to change this, we interviewed 23 autistic adults from the United State and the United Kingdom about their past and current experiences of physical activity participation. The interviewees told us about how their physical activity experiences were highly influenced by their individual strengths, the setting in which the activity took place, the presence of people to support their physical activities, and the sensory experiences they had while in physical activity. Through these interviews, we were able to create a model that represented the physical activity experiences discussed. Based on the model that emerged from this study, we recommend physical activity opportunities are made available that are noncompetitive, sensory-friendly, and that allow for participants to socialize as they prefer.

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7. Conine DE, Vollmer TR, Barlow MA, Grauerholz-Fisher E, Dela Rosa CM, Petronelli AK. Assessment and treatment of response to name for children with autism spectrum disorder : Toward an efficient intervention model. J Appl Behav Anal ;2020 (Jun 23)

Response to name (RTN) is an early developmental milestone, deficits in which are associated with autism spectrum disorder (ASD). This study extends previous research by evaluating an assessment and treatment model for RTN with 13 children with ASD. For all participants, phase 1 was a naturalistic social baseline. The 9 children who did not meet mastery criteria in phase 1 underwent a series of treatment conditions in phase 2. In phase 3, treatment components were removed, and generalization was assessed. Results indicated that tangible reinforcement procedures can produce rapid increases in discriminated RTN, sometimes without prompts. The total number of trials to mastery were reduced in the current study relative to previous research. Results also provide preliminary evidence to suggest that the phase 1 baseline condition may produce distinct patterns of RTN that could be used to predict treatment effects and further reduce trials to mastery in future work.

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8. Cucinotta F, Ricciardello A, Turriziani L, Calabrese G, Briguglio M, Boncoddo M, Bellomo F, Tomaiuolo P, Martines S, Bruschetta M, La Fauci Belponer F, Di Bella T, Colombi C, Baccarin M, Picinelli C, Castronovo P, Lintas C, Sacco R, Biederer T, Kellam B, Scherer SW, Persico AM. FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family. Mol Genet Genomic Med ;2020 (Jun 25):e1373.

BACKGROUND : Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. METHODS : Array-CGH (a-CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers received the same naturalistic intervention for one year according to the Early Start Denver Model (ESDM), applied by the same therapists, yielding dramatically different treatment outcomes. RESULTS : The older sibling came out of the autism spectrum, while the younger sibling displayed very little, in any, improvement. This boy was subsequently treated applying a structured Early Intensive Behavioral Intervention paired with Augmentative Alternative Communication, which yielded a partial response within another year. The ESDM nonresponsive child carries a novel maternally inherited 65 Kb deletion at chr. 13q32.2 spanning FARP1. Farp1 is a synaptic scaffolding protein, which plays a significant role in neural plasticity. CONCLUSION : These results represent a paradigmatic example of the heuristic potential of genetic markers in predicting treatment response and possibly in supporting the targeted prescription of specific early intervention approaches.

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9. Dewinter J, van der Miesen AIR, Holmes LG. INSAR Special Interest Group Report : Stakeholder Perspectives on Priorities for Future Research on Autism, Sexuality, and Intimate Relationships. Autism Res ;2020 (Jun 25)

The number of empirical studies on sexuality and intimate relationships in autistic people has grown over the last years with the increasing awareness that sexuality and intimate relationships are an important part of life and well-being for autistic people. Further, expression and enjoyment of sexuality is a fundamental, basic human right. This paper reports on needs for future research in this area based on the input of autistic adults, researchers, and other stakeholders (e.g., parents and professionals). Utilizing the nominal group technique, 65 individuals participated in eight groups in which they brainstormed on research questions they deemed most important. Responses were categorized into themes and ranked according to importance based on the level of priority attributed by participants. Findings suggest that future research should focus on developing ways to support sexual and relationship well-being and getting a better understanding of sexuality and relationships in autistic people. Also, attention was drawn to the need for studying the influence of stereotypical societal views, and stigma. Finally, the importance of participatory research to include perspectives of autistic people in research and practice was stressed. LAY SUMMARY : Sexuality and romantic relationships are part of daily life for most people, including autistic people. For this study, groups of autistic people, professionals, and autism researchers discussed which research on autism, sexuality, and relationships is needed and can help autistic adolescents and adults. The group discussions revealed that more research is needed on how to support well-being relating to romantic relationships and sexuality in autistic people and how the people around them can contribute to this. Therefore, we also need to learn more about how autistic people of all ages and throughout their lives experience sexuality and relationships. Finally, the need for attention to the role of stereotypical ideas and stigma about autism, sexuality, and relationships was pointed out. Attention to the experiences of autistic people can help professionals, researchers, and policy makers to offer and organize attuned support and do relevant research.

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10. Fantasia V, Markant DB, Valeri G, Perri N, Ruggeri A. Memory enhancements from active control of learning in children with autism spectrum disorder. Autism ;2020 (Jun 24):1362361320931244.

Research with adults and typically developing children has shown that being able to actively control their learning experience, that is, to decide what to learn, when, and at what pace, can boost learning in a variety of contexts. In particular, previous research has shown a robust advantage of active control for episodic memory as compared with conditions lacking this control. In this article, we explore the potential of active control to improve learning of 6- to 12-year-old children diagnosed with autism spectrum disorder. We presented them with a simple memory game on a touchscreen tablet, in which children were asked to recall as many of the presented objects as possible. For half of the objects, children could decide the order and pacing of study (active condition) ; for the other half, they passively observed the study decisions of a previous participant (yoked condition). We found that recognition memory was more accurate when children could actively control the order, pace, and frequency of the study experience, even after a week-long delay. We discuss how teachers and educators might promote active learning approaches in educational and pedagogical applications to support inclusive learning.

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11. Gernsbacher MA, Stevenson JL, Dern S. Autistic People Do Enhance Their Selves. Soc Psychol Personal Sci ;2020 (Jul) ;11(5):605-615.

We investigated whether autistic people are less prone to self-enhance (i.e., portray themselves in socially desirable ways). Autistic (N = 130) and non-autistic (N = 130) participants first responded to social desirability items using the standard instruction to endorse each item as true or false about themselves. Then, all participants read an explanation of what social desirability items measure before responding again to the social desirability items. Self-enhancement was operationalized as participants endorsing more social desirability items before learning the explanation than after. All participants endorsed significantly more social desirability items before learning the explanation than after, F (subjects)(1,258) = 57.73, p < .001, η(2) (p) = .183 ; F (items)(1,34) = 43.04, p < .001, η(2) (p) = .559). However, autistic and non-autistic participants did not significantly differ in how many items they endorsed, either before or after reading the explanation, indicating that autistic people are as susceptible to social desirability and self-enhancement as non-autistic people are. Our results challenge the claim that autistic people are immune to reputation management.

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12. Güeita-Rodriguez J, Famoso-Pérez P, Salom-Moreno J, Carrasco-Garrido P, Pérez-Corrales J, Palacios-Ceña D. Challenges Affecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome : A Qualitative Case Study. Int J Environ Res Public Health ;2020 (Jun 21) ;17(12)

Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers’ field notes and parents’ personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed. Three main themes emerged from the data : (a) essential health resources ; (b) bureaucracy and social care ; and (c) time management constraints. Parents have difficulties accessing appropriate health services for their children. Administrative obstacles exist for accessing public health services, forcing parents to bear the financial cost of specialized care. Time is an essential factor, which conditions the organization of activities for the entire family. Qualitative research offers insight into how parents of children with Rett syndrome experience access to resources and may help improve understanding of how Rett syndrome impacts the lives of both the children and their parents.

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13. Lin J, Souza-Lin GR, Antunes FC, Wessler LB, Streck EL, Gonçalves CL. Autism associated with 12q (12q24.31-q24.33) deletion : further report of an exceedingly rare disorder. Einstein (Sao Paulo) ;2020 ;18:eRC5335.

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.
Publisher : Abstract available from the publisher.
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14. Lunden JW, Durens M, Nestor J, Niescier RF, Herold K, Brandenburg C, Lin YC, Blatt GJ, Nestor MW. Development of a 3-D Organoid System Using Human Induced Pluripotent Stem Cells to Model Idiopathic Autism. Adv Neurobiol ;2020 ;25:259-297.

Autism spectrum condition (ASC) is a complex set of behavioral and neurological responses reflecting a likely interaction between autism susceptibility genes and the environment. Autism represents a spectrum in which heterogeneous genetic backgrounds are expressed with similar heterogeneity in the affected domains of communication, social interaction, and behavior. The impact of gene-environment interactions may also account for differences in underlying neurology and wide variation in observed behaviors. For these reasons, it has been difficult for geneticists and neuroscientists to build adequate systems to model the complex neurobiology causes of autism. In addition, the development of therapeutics for individuals with autism has been painstakingly slow, with most treatment options reduced to repurposed medications developed for other neurological diseases. Adequately developing therapeutics that are sensitive to the genetic and neurobiological diversity of individuals with autism necessitates personalized models of ASC that can capture some common pathways that reflect the neurophysiological and genetic backgrounds of varying individuals. Testing cohorts of individuals with and without autism for these potentially convergent pathways on a scalable platform for therapeutic development requires large numbers of samples from a diverse population. To date, human induced pluripotent stem cells (iPSCs) represent one of the best systems for conducting these types of assays in a clinically relevant and scalable way. The discovery of the four Yamanaka transcription factors (OCT3/4, SOX2, c-Myc, and KLF4) [1] allows for the induction of iPSCs from fibroblasts [2], peripheral blood mononuclear cells (PBMCs, i.e. lymphocytes and monocytes) [3, 4], or dental pulp cells [5] that retain the original genetics of the individual from which they were derived [6], making iPSCs a powerful tool to model neurophysiological conditions. iPSCs are a readily renewable cell type that can be developed on a small scale for boutique-style proof-of-principle phenotypic studies and scaled to an industrial level for drug screening and other high-content assays. This flexibility, along with the ability to represent the true genetic diversity of autism, underscores the importance of using iPSCs to model neurophysiological aspects of ASC.

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15. McLaughlin L, Rapoport E, Keim SA, Adesman A. Wandering by Children with Autism Spectrum Disorders : Impact of Electronic Tracking Devices on Elopement Behavior and Quality of Life. J Dev Behav Pediatr ;2020 (Jun 17)

OBJECTIVE : Half of US children with autism spectrum disorder (ASD) have attempted to elope from adult supervision at least once, elevating their risk for serious injury/death. This study aimed to assess, in a sample of children with ASD aged 4 to 18 years who had previously wandered, whether electronic tracking device (ETD) use is associated with changes in the elopement behavior and household quality of life (QOL). METHODS : An anonymous, online questionnaire assessing elopement interventions, elopement behavior, household QOL, attitudes toward ETDs, and sociodemographics was distributed via US autism-related organizations to caregivers of children with ASD. Differences in retrospective estimates of elopement behavior and household QOL before ETD use and during ETD use were evaluated using Wilcoxon signed-rank tests. RESULTS : A total of 2563 participants completed the questionnaire ; 1459 participants met the inclusion criteria. For the current (n = 361) and past (n = 96) ETD users, ETD use was associated with decreased frequency and duration of elopement and decreased risk for serious injury because of elopement (all p < 0.001). ETD use was similarly associated with improvements across all 5 measures of QOL. Among the past ETD users, reasons for discontinuation included device discomfort/fit (33.3%), burden of use (27.1%), and financial cost (14.6%). Among the non-ETD users (n = 1002), common barriers to ETD use were cost (47.5%) and lack of awareness of ETD technology (18.8%). CONCLUSION : Electronic tracking devices represent a promising technology to help safeguard the well-being of children with ASD while reducing the emotional toll that elopement imposes on families. Cost concerns, burden of use, and lack of awareness seem to limit the widespread adoption of ETDs.

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16. Perryman T, Ricks L, Cash-Baskett L. Meaningful Transitions : Enhancing Clinician Roles in Transition Planning for Adolescents With Autism Spectrum Disorders. Lang Speech Hear Serv Sch ;2020 (Jun 25):1-15.

Purpose The purpose of this tutorial is to provide speech-language pathologists (SLPs) with foundational information that will assist them in transition planning for students with autism spectrum disorder (ASD) based on a review of current literature. SLPs must be knowledgeable of transition planning in order to assist students with ASD and their families with preparing for their future. An appreciation and awareness of pertinent assessments, functional goals, and factors associated with successful postsecondary outcomes are essential competencies that SLPs need when planning for the transition process. SLPs are ideal workforce development partners. They facilitate independence, communication, and interaction skills necessary for postsecondary and workplace success. Speech-language services are one of the most common special education services received by high school students with Individualized Education Programs. However, SLPs receive little preparation on the specifics or nuances of transition planning prior to working in the educational settings, despite the high incidence of speech-language services in secondary education. Method This tutorial reviews and synthesizes research findings related to assessment planning, goal-setting, and Individualized Education Program implementation for achieving meaningful postsecondary transitions for students with ASD. Additionally, it highlights some of the key postsecondary skillsets related to speech-language therapy services, including the development of self-determination, self-advocacy, social competence, and adaptive behaviors. Conclusion Greater focus on higher quality transition planning requires SLPs to develop high levels of knowledge and competencies in the transition planning process. This tutorial educates clinicians on the unique challenges faced by individuals with ASD and provides evidence-based strategies to help students and families successfully plan for and navigate postsecondary transitions.

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17. Prem S, Millonig JH, DiCicco-Bloom E. Dysregulation of Neurite Outgrowth and Cell Migration in Autism and Other Neurodevelopmental Disorders. Adv Neurobiol ;2020 ;25:109-153.

Despite decades of study, elucidation of the underlying etiology of complex developmental disorders such as autism spectrum disorder (ASD), schizophrenia (SCZ), intellectual disability (ID), and bipolar disorder (BPD) has been hampered by the inability to study human neurons, the heterogeneity of these disorders, and the relevance of animal model systems. Moreover, a majority of these developmental disorders have multifactorial or idiopathic (unknown) causes making them difficult to model using traditional methods of genetic alteration. Examination of the brains of individuals with ASD and other developmental disorders in both post-mortem and MRI studies shows defects that are suggestive of dysregulation of embryonic and early postnatal development. For ASD, more recent genetic studies have also suggested that risk genes largely converge upon the developing human cerebral cortex between weeks 8 and 24 in utero. Yet, an overwhelming majority of studies in autism rodent models have focused on postnatal development or adult synaptic transmission defects in autism related circuits. Thus, studies looking at early developmental processes such as proliferation, cell migration, and early differentiation, which are essential to build the brain, are largely lacking. Yet, interestingly, a few studies that did assess early neurodevelopment found that alterations in brain structure and function associated with neurodevelopmental disorders (NDDs) begin as early as the initial formation and patterning of the neural tube. By the early to mid-2000s, the derivation of human embryonic stem cells (hESCs) and later induced pluripotent stem cells (iPSCs) allowed us to study living human neural cells in culture for the first time. Specifically, iPSCs gave us the unprecedented ability to study cells derived from individuals with idiopathic disorders. Studies indicate that iPSC-derived neural cells, whether precursors or "matured" neurons, largely resemble cortical cells of embryonic humans from weeks 8 to 24. Thus, these cells are an excellent model to study early human neurodevelopment, particularly in the context of genetically complex diseases. Indeed, since 2011, numerous studies have assessed developmental phenotypes in neurons derived from individuals with both genetic and idiopathic forms of ASD and other NDDs. However, while iPSC-derived neurons are fetal in nature, they are post-mitotic and thus cannot be used to study developmental processes that occur before terminal differentiation. Moreover, it is important to note that during the 8-24-week window of human neurodevelopment, neural precursor cells are actively undergoing proliferation, migration, and early differentiation to form the basic cytoarchitecture of the brain. Thus, by studying NPCs specifically, we could gain insight into how early neurodevelopmental processes contribute to the pathogenesis of NDDs. Indeed, a few studies have explored NPC phenotypes in NDDs and have uncovered dysregulations in cell proliferation. Yet, few studies have explored migration and early differentiation phenotypes of NPCs in NDDs. In this chapter, we will discuss cell migration and neurite outgrowth and the role of these processes in neurodevelopment and NDDs. We will begin by reviewing the processes that are important in early neurodevelopment and early cortical development. We will then delve into the roles of neurite outgrowth and cell migration in the formation of the brain and how errors in these processes affect brain development. We also provide review of a few key molecules that are involved in the regulation of neurite outgrowth and migration while discussing how dysregulations in these molecules can lead to abnormalities in brain structure and function thereby highlighting their contribution to pathogenesis of NDDs. Then we will discuss whether neurite outgrowth, migration, and the molecules that regulate these processes are associated with ASD. Lastly, we will review the utility of iPSCs in modeling NDDs and discuss future goals for the study of NDDs using this technology.

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18. Shamsi Meymandi M, Sepehri G, Moslemizadeh A, Vakili Shahrbabaki S, Bashiri H. Prenatal pregabalin is associated with sex-dependent alterations in some behavioral parameters in valproic acid- induced autism in rat offspring. Int J Dev Neurosci ;2020 (Jun 25)

This study was performed to evaluate the effects of prenatal exposure to pregabalin (PGB) on behavioral changes of rat offspring in an animal model of valproic acid (VPA) induced autism- like symptoms. Pregnant rats received VPA (600mg/kg/ i.p.) once at 12.5 gestational days for autism- like symptom induction in offspring. After the delivery single male and single female offspring from each mother were randomly selected for behavioral test (anxiety, pain response, pleasure and motor function) at 60(th) day adulthood (n=7). Offspring received prenatal PGB (15 & 30 mg/kg/i.p.) during gestational days 9.5 to 15.5 either alone or in combination with VPA (PGB15, PGB30, PGB15+VPA, PGB30+VPA). Control offspring received normal saline during the same period. The result showed that prenatal VPA exposure was associated with autism-like behaviors in rat offspring. PGB treatment during the gestational period revealed significant reduction in sucrose preference test and anxiety in elevated plus maze and open field test in offspring. Also, PGB treatments exhibited a dose-dependent increase in pain threshold in prenatally VPA exposed rats in tail flick and hot plate test. Also, there was a sex-related significant impairment in motor function in beam balance and open field test, and male rats were affected more than females. However, no significant sex differences in sucrose preference and pain sensitivity were observed in prenatal PGB treated rat offspring. In conclusion, prenatal exposure to VPA increased the risk of autism like behaviors in the offspring rats, and PGB treatment during the gestational period was associated with some beneficial effects, including anxiety reduction and motor impairment in autism like symptoms in rat offspring.

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19. Suckle EK. DSM-5 and Challenges to Female Autism Identification. J Autism Dev Disord ;2020 (Jun 25)

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20. Tan A, Semmel ES, Wolf I, Hammett B, Ilardi D. Implementing standard screening for autism spectrum disorder in CHD. Cardiol Young ;2020 (Jun 25):1-8.

INTRODUCTION : While the overall prevalence of autism is 1.7% in the United States of America, research has demonstrated a two- to five-fold increase in CHD. The Cardiac Neurodevelopmental Outcome Collaborative recommends screening for autism from infancy through adolescence. This study investigated the frequency of autism concerns at a single Cardiac Neurodevelopmental Program and examined current clinical practice as a way to improve quality of care. MATERIALS AND METHODS : Patients (n = 134 ; mean age = 9.0 years) included children with high-risk CHD who completed a neurodevelopmental evaluation following a formalised referral to the Cardiac Neurodevelopmental Program between 2018 and 2019. Retrospective chart review included parent report on the Behaviour Assessment System for Children-3 and Adaptive Behaviour Assessment System-3. Descriptive and correlation analyses were completed. RESULTS : In this sample, 11.2% presented with autism-related concerns at referral, 2 were diagnosed with autism, 9 were referred to an autism specialist (6 confirmed diagnosis ; 3 not completed). Thus, at least 5.9% of the sample were diagnosed with autism following thorough clinical evaluation. Analyses showed atypicality, along with deficient adaptability, leisure, social, and communication skills. Frequency of early intervention, school supports, and relation with comorbidities are reported. DISCUSSION : Prior to assessment recommendations by the Cardiac Neurodevelopmental Outcome Collaborative, autism screening may not be completed systematically in clinical care for CHD. The current sample demonstrates a high frequency of autism in the typically referred clinical sample. Commonly used parent-report measures may reveal concerns but will not help diagnosis. Systematic use of an autism screener is essential.

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21. Turkalj L, Mehta M, Matteson P, Prem S, Williams M, Connacher RJ, DiCicco-Bloom E, Millonig JH. Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons. Adv Neurobiol ;2020 ;25:79-107.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is remarkably heterogeneous at the clinical, neurobiological, and genetic levels. ASD can also affect language, a uniquely human capability, and is caused by abnormalities in brain development. Traditionally obtaining biologically relevant human cells to study ASD has been extremely difficult, but new technologies including iPSC-derived neurons and high-throughput omic techniques now provide new, exciting tools to uncover the cellular and signaling basis of ASD etiology.

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22. Zhao X, Bhattacharyya A. Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome. Adv Neurobiol ;2020 ;25:33-53.

Fragile X syndrome (FXS), the most common genetic form of autism spectrum disorder, is caused by deficiency of the fragile X mental retardation protein (FMRP). Despite extensive research using animal models, understanding how FMRP regulates human brain development and function remains a major challenge. Human pluripotent stem cells (hPSCs) offer powerful platforms for studying mechanisms of human diseases and for evaluating potential treatments. Genome editing, particularly the CRISPR/Cas9-based method, is highly effective for generating models to study genetic human diseases. Here we summarize how hPSCs and genome editing provide much-needed models for studying the genetic underpinnings, cellular mechanisms, and neuropathology that are unique to human FXS. The use of hPSCs and genome editing also provides an essential platform for therapeutic development in FXS.

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