Pubmed du 25/03/20

mercredi 25 mars 2020

1. Abbeduto L, Berry-Kravis E, Sterling A, Sherman S, Edgin JO, McDuffie A, Hoffmann A, Hamilton D, Nelson M, Aschkenasy J, Thurman AJ. Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome : feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 ; 12(1) : 10.

BACKGROUND : The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed : (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS : Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers) : number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS : We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS : The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12.

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2. Anns S, Gaigg SB, Hampton JA, Bowler DM, Boucher J. Declarative Memory and Structural Language Impairment in Autistic Children and Adolescents. Autism Res. 2020.

Two experiments tested the hypothesis that a plausible contributory factor of structural language impairment in Autism Spectrum Disorder (ASD) is impaired declarative memory. We hypothesized that familiarity and recollection (subserving semantic and episodic memory, respectively) are both impaired in autistic individuals with clinically significant language impairment and learning disability (ASD(LI/LD) ) ; whereas recollection is selectively impaired in autistic individuals with typical language (ASD(TL) ). Teenagers with ASD(LI/LD) (n = 19) and primary school age children with ASD(TL) (n = 26) were compared with teenagers with learning disability (LD) (n = 26) without autism, and primary school aged typically developing (TD) children (n = 32). Both experiments provided strong support for the hypothesized links between declarative memory processes and lexical-semantic facets of language in the two autistic groups, but not in the TD group. Additional findings of interest were that declarative memory processes and lexical-semantic knowledge were also linked in the LD group and that the ASD groups-and to a lesser extent the LD group-may have compensated for declarative memory impairments using spared visual-perceptual abilities, a finding with potential educational implications. Relative difficulties with familiarity and recollection in ASD(LI/LD) and LD may help explain structural language impairment, as investigated here, but also the broader learning disabilities found in these populations. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Language impairment and learning disability affect 45% of the autistic population yet the factors that may be contributing to them is remarkably under-researched. To date there are no explanations of the lexical semantic (word meaning) abnormalities observed in ASD. We found that declarative memory is associated with lexical semantic knowledge in autism and learning disability but not in typical development. Difficulties with declarative memory may also be compensated for using visual-perceptual abilities by autistic and learning-disabled adolescents, which has positive implications for educationalists.

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3. Chahin SS, Apple RW, Kuo KH, Dickson CA. Autism spectrum disorder : psychological and functional assessment, and behavioral treatment approaches. Translational pediatrics. 2020 ; 9(Suppl 1) : S66-s75.

There have been significant changes in the way Autism has been defined especially in the last decade. The changes encompass criteria over a spectrum rather than individual diagnoses based on clusters of criteria. With these changes, there has been a push for earlier screening and diagnosis to be made to ensure individual impacted by the deficits have ample time and opportunity to receive the services they need. Additionally, with the changes that have come up, screening tools and assessments have also been changed and improved to assist with the increasing demand of early screening. Screeners have been created to help in primary care settings so physicians can gauge the severity of symptoms and refer patients to the appropriate resources. The assessment and diagnostic process for Autism involves a large battery including parental interviews and forms, the ADOS-II, and a multitude of other intellectual assessments to get a full picture of what the individual is experiencing. Once an individual is diagnosed with Autism, the interventionist team, physicians, and clinicians assist the family in finding the appropriate resources and treatment plan. There are several evidence-based therapies that exist that have been effective in improving the quality of life of individuals with Autism Spectrum Disorder diagnoses. Although several interventions and therapies exist, there are some potential interventions some use that need to more research to know how truly effective they are.

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4. Dellapiazza F, Michelon C, Vernhet C, Muratori F, Blanc N, Picot MC, Baghdadli A. Sensory processing related to attention in children with ASD, ADHD, or typical development : results from the ELENA cohort. Eur Child Adolesc Psychiatry. 2020.

Autism-spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are early neurodevelopmental conditions that share clinical characteristics, raising important issues in clinical diagnosis. We aimed to compare (1) sensory processing in four groups of children : ASD alone, ASD + ADHD, ADHD alone, and typical development (TD) and (2) the association between sensory processing and attention in the three groups with neurodevelopmental disorders. Our sample included 120 children aged from 6 to 12 years divided into four groups : ASD alone (N = 43), ASD + ADHD (N = 18), ADHD alone (N = 28), and TD (N = 31). Atypical sensory processing was more frequent in ASD and/or ADHD than in TD, without a significant difference between ASD and ADHD. However, the variance analysis of attention problems revealed differences between the ADHD and ASD groups. Thus, the rate of atypical sensory processing was comparable between the ASD and ADHD groups, suggesting that further studies are needed to explore atypical SP in all neurodevelopmental disorders.

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5. Dunn S, Jones M. Binocular rivalry dynamics associated with high levels of self-reported autistic traits suggest an imbalance of cortical excitation and inhibition. Behav Brain Res. 2020 : 112603.

An imbalance in cortical excitation and inhibition (E/I) may underlie both social and non-social symptoms of autism spectrum conditions (ASC). Recent work suggests that an E/I imbalance may underlie some of the sensory differences that are characteristic of ASCs such as anomalous perception. Binocular rivalry dynamics are thought to reflect the balance of E/I in the brain and could serve as a behavioural biomarker for ASC. Previous studies of clinical ASC populations have found a slower rate of binocular rivalry transitions ; increased duration of the mixed percept and reduced perceptual suppression. There are some mixed reports of altered rivalry dynamics in the neurotypical population with high self-reported levels of autistic traits. Therefore, we used simple grating stimuli to measure binocular rivalry dynamics in a sample of seventy-nine adults aged 18-55 years. We additionally measured the level of autistic traits with the AQ-10 and used CAPS as a measure of anomalous perception. Bayesian correlations showed that those with higher AQ scores had a slower rate of perceptual switching and a longer mixed percept duration. Significant regression models with CAPS and AQ score revealed that AQ score was a significant predictor of switch rate and mixed percept duration, whereas CAPS was not. We also report that CAPS significantly predicted perceptual suppression, whereas AQ score did not. Overall, our findings suggest that in a non-clinical population, autistic traits are a predictor of binocular rivalry dynamics and the cortical E/I imbalance thought to underlie symptoms of ASC may extend to the broader phenotype.

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6. Filon J, Ustymowicz-Farbiszewska J, Krajewska-Kulak E. Analysis of lead, arsenic and calcium content in the hair of children with autism spectrum disorder. BMC public health. 2020 ; 20(1) : 383.

BACKGROUND : Explanation of the pathogenesis and treatment of autism spectrum disorders (ASD) is one of the most significant challenges for scientists today. It is believed that a major pathogenetic factor of this condition is epigenetic changes caused by environmental factors, including toxic metals (cadmium (Cd), lead (Pb), mercury (Hg), aluminium (Al), and arsenic (As)). The nervous system may also be affected by deficiencies of both micro- and macroelements (e.g. calcium (Ca), zinc (Zn)). The aim of the study was to analyze the concentrations of Pb, As, and Ca in the hair of children with ASD and a control group. METHODS : The materials for the study comprised hair samples collected from 30 children diagnosed with ASD (case group) and 30 children randomly selected from the general population of Bialystok and surrounding region (control group). Concentrations of Pb, As, and Ca were tested with electron microscopy scanning method. Next, the content of the analyzed elements in the hair was assessed as well as their impact on autism development in the children and the mutual interactions between them. The obtained results were statistically analyzed with Statistica PL 12.5., using the Mann-Whitney U test, and Spearman correlation coefficient. RESULTS : Mean Ca level in the hair of the case group was lower than the mean level of this element in the control group. Mean As and Pb concentration in the hair of children with ASD was statistically significantly higher than the mean concentration of this element in the hair of children without neurological disorders. Statistically insignificant weak positive correlations between Ca and As content and negative between Ca and Pb in the hair of children from the case group were noted. Also, statistically significant mean positive correlations between Pb and As were observed. CONCLUSIONS : In this small study, according to the observations, children diagnosed with ASD suffer from Ca deficiency and toxic metal overload (As and Pb). These abnormalities may play the main role, as an environmental factor, in the pathogenesis of the analyzed disorder.

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7. Gray JM, Roback MG. Case Studies of Challenges in Emergency Care for Children With Autism Spectrum Disorder. Pediatric emergency care. 2020.

Autism spectrum disorder (ASD) affects more than 1% of children in the United States, with the rate of new diagnoses climbing significantly in the last 15 years. Emergent conditions and subsequent visits to the emergency department (ED) can be particularly challenging for children with ASD, most of whom also have comorbidities in addition to their deficits in social communication and interaction. In the emergency setting, these conditions can cause a range of behaviors that result in challenges for health care providers and may result in suboptimal experiences for children with ASD and their families. We present the ED course of 3 children with ASD to illustrate these challenges, emphasize successful strategies, and highlight opportunities for improvement.

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8. Hodges H, Fealko C, Soares N. Autism spectrum disorder : definition, epidemiology, causes, and clinical evaluation. Translational pediatrics. 2020 ; 9(Suppl 1) : S55-s65.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. There have been recent concerns about increased prevalence, and this article seeks to elaborate on factors that may influence prevalence rates, including recent changes to the diagnostic criteria. The authors review evidence that ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain, and enumerate factors that correlate with ASD risk. Finally, the article describes how clinical evaluation begins with developmental screening, followed by referral for a definitive diagnosis, and provides guidance on screening for comorbid conditions.

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9. Iacob CI, Avram E, Cojocaru D, Podina IR. Resilience in Familial Caregivers of Children with Developmental Disabilities : A Meta-analysis. J Autism Dev Disord. 2020.

The aim of this meta-analysis was to investigate factors associated with resilience in familial caregivers of children with developmental disabilities. The protocol was registered in the PROSPERO database, with the registration number CRD42018105180. Several electronic databases were searched for studies. A random-effects meta-analysis was performed on 26 selected studies that associated resilience to an array of other variables (i.e., psychological distress, social support, coping, perceived health, life satisfaction). Overall, the significant pooled effect sizes were small to medium, ranging from r = 0.291 for coping to r = 0.442 for social support. Although the literature on the topic has improved, there is a lot of study heterogeneity and the need for focusing on male caregivers becomes evident.

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10. Levinson S, Eisenhower A, Bush HH, Carter AS, Blacher J. Brief Report : Predicting Social Skills from Semantic, Syntactic, and Pragmatic Language Among Young Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The language and social skill deficits associated with autism spectrum disorder (ASD) warrant further study. Existing research has focused on the contributions of pragmatic language to social skills, with little attention to other aspects of language. We examined the associations across three language domains (semantics, syntax, and pragmatics) and their relations to parent- and teacher-rated social skills among children with ASD. When parent-reported language skills were considered simultaneously, only semantics significantly predicted children’s social skills. For teacher-reported language skills, all three language domains predicted children’s social skills, but none made unique contributions above and beyond one another. Further research should consider the impact of social context on language expectations and interventions targeting semantic language on children’s development of social skills.

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11. Luoni M, Giannelli S, Indrigo MT, Niro A, Massimino L, Iannielli A, Passeri L, Russo F, Morabito G, Calamita P, Gregori S, Deverman B, Broccoli V. Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome. eLife. 2020 ; 9.

Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles since MECP2 is expressed throughout the brain and its duplication leads to severe neurological conditions as well. Herein, we use the AAV-PHP.eB to deliver an instability-prone Mecp2 (iMecp2) transgene cassette which, increasing RNA destabilization and inefficient protein translation of the viral Mecp2 transgene, limits supraphysiological Mecp2 protein levels. Intravenous injections of the PHP.eB-iMecp2 virus in symptomatic Mecp2 mutant mice significantly improved locomotor activity, lifespan and gene expression normalization. Remarkably, PHP.eB-iMecp2 administration was well tolerated in female Mecp2 mutant or in wild-type animals. In contrast, we observed a strong immune response to the transgene in treated male Mecp2 mutant mice that was overcome by immunosuppression. Overall, PHP.eB-mediated delivery of iMecp2 provided widespread and efficient gene transfer maintaining physiological Mecp2 protein levels in the brain.

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12. Marin A, Hutman T, Ponting C, McDonald NM, Carver L, Baker E, Daniel M, Dickinson A, Dapretto M, Johnson SP, Jeste SS. Electrophysiological signatures of visual statistical learning in 3-month-old infants at familial and low risk for autism spectrum disorder. Dev Psychobiol. 2020.

Visual statistical learning (VSL) refers to the ability to extract associations and conditional probabilities within the visual environment. It may serve as a precursor to cognitive and social communication development. Quantifying VSL in infants at familial risk (FR) for Autism Spectrum Disorder (ASD) provides opportunities to understand how genetic predisposition can influence early learning processes which may, in turn, lay a foundation for cognitive and social communication delays. We examined electroencephalography (EEG) signatures of VSL in 3-month-old infants, examining whether EEG correlates of VSL differentiated FR from low-risk (LR) infants. In an exploratory analysis, we then examined whether EEG correlates of VSL at 3 months relate to cognitive function and ASD symptoms at 18 months. Infants were exposed to a continuous stream of looming shape pairs with varying probability that the shapes would occur in sequence (high probability-deterministic condition ; low probability-probabilistic condition). EEG was time-locked to shapes based on their transitional probabilities. EEG analysis examined group-level characteristics underlying specific components, including the late frontal positivity (LFP) and N700 responses. FR infants demonstrated increased LFP and N700 response to the probabilistic condition, whereas LR infants demonstrated increased LFP and N700 response to the deterministic condition. LFP at 3 months predicted 18-month visual reception skills and not ASD symptoms. Our findings thus provide evidence for distinct VSL processes in FR and LR infants as early as 3 months. Atypical pattern learning in FR infants may lay a foundation for later delays in higher level, nonverbal cognitive skills, and predict ASD symptoms well before an ASD diagnosis is made.

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13. Park HI, Park HY, Yoo E, Han A. Impact of Family-Centered Early Intervention in Infants with Autism Spectrum Disorder : A Single-Subject Design. Occup Ther Int. 2020 ; 2020 : 1427169.

Objective : Autism spectrum disorder is a neurodevelopmental disorder that affects communication, social skills, and behavior and can present in early childhood. The present study is aimed at investigating the effects of family-centered early intervention on the quality of social interaction and social interaction skills in infants with suspected autism spectrum disorder using a single-subject design. Method : As a single-subject design study, evaluations were conducted at baseline phase A, intervention phase B, baseline phase A’, and follow-up phase. The family-centered early intervention program was implemented during the intervention phase. Family-centered early intervention programs included home environmental modification, play video recording and training, task and feedback, related information training, and question and answer. The Modified Checklist for Autism in Toddlers, Revised, with Follow-Up and Evaluation of Social Interaction was used for evaluation. Result : Three participants completed the study. After applying the family-centered early intervention program, the quality of social interaction and social interaction skills of all participants improved. In addition, the risk of autism spectrum disorder in all participants was reduced. Conclusion : Family-centered early intervention was confirmed to have a positive effect on the improvement of social interaction skills in infants with suspected autism spectrum disorder.

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14. Petrocchi S, Levante A, Lecciso F. Systematic Review of Level 1 and Level 2 Screening Tools for Autism Spectrum Disorders in Toddlers. Brain Sci. 2020 ; 10(3).

The present study provides a systematic review of level 1 and level 2 screening tools for the early detection of autism under 24 months of age and an evaluation of the psychometric and measurement properties of their studies. Methods : Seven databases (e.g., Scopus, EBSCOhost Research Database) were screened and experts in the autism spectrum disorders (ASD) field were questioned ; Preferred Reporting Items for Systematic review and Meta-Analysis (PRISMA) guidelines and Consensus-based Standard for the selection of health Measurement INstruments (COSMIN) checklist were applied. Results : the study included 52 papers and 16 measures ; most of them were questionnaires, and the Modified-CHecklist for Autism in Toddler (M-CHAT) was the most extensively tested. The measures’ strengths (analytical evaluation of methodological quality according to COSMIN) and limitations (in term of Negative Predictive Value, Positive Predictive Value, sensitivity, and specificity) were described ; the quality of the studies, assessed with the application of the COSMIN checklist, highlighted the necessity of further validation studies for all the measures. According to COSMIN results, the M-CHAT, First Years Inventory (FYI), and Quantitative-CHecklist for Autism in Toddler (Q-CHAT) seem to be promising measures that may be applied systematically by health professionals in the future.

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15. Sanchez-Garcia AB, Nieto-Libreros AB, Galindo-Villardon P, Robins DL. Please, Don’t Shoot the Meta-analysis : A Response to "A Commentary to Toddler Screening for Autism Spectrum Disorder : A Meta-analysis of Diagnostic Accuracy by Sanchez-Garcia et al. 2019". J Autism Dev Disord. 2020.

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16. Stadnick NA, Martinez K, Aarons GA, Lee D, Van-Cleave J, Brookman-Frazee L. Pediatric Primary Care Perspectives on Integrated Mental Health Care for Autism. Academic pediatrics. 2020.

OBJECTIVE : Timely identification of mental health needs and linkage to services is critical to provide comprehensive care for children with autism spectrum disorder (ASD). Pediatric primary care is well-positioned to facilitate this process through integrated care approaches. As a first step towards mental health integration, this study applied the Exploration, Preparation, Implementation, and Sustainment framework to characterize determinants of implementing integrated care practices for ASD. METHODS : Sixty pediatric primary care providers and leaders from three organizations completed focus groups and surveys about identification of mental health needs in children with ASD and access to mental health services. Findings were integrated to examine convergence (i.e., do the two methods confirm or find similar results) and expansion (i.e., do the two methods provide insights beyond either method alone). RESULTS : Results converged regarding three primary influences to integrated care practices for ASD : 1) limited specialized mental health referral options for ASD, 2) unique structural characteristics of the mental health system act as barriers to accessing care and 3) caregivers differ in the degree to which they understand co-occurring mental health conditions and pursue recommended services. Qualitative results provided expansion by highlighting unique implementation considerations (e.g., alignment with healthcare delivery priorities and values) based on primary care characteristics. CONCLUSIONS : Findings confirm need for a tailored approach for linking children with ASD to appropriate mental health treatment. Results yield insight into the needs for organizational capacity to support integrated care and provide direction towards adapting an integrated mental health care model for children with ASD.

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17. Tenenbaum EJ, Carpenter KLH, Sabatos-DeVito M, Hashemi J, Vermeer S, Sapiro G, Dawson G. A Six-Minute Measure of Vocalizations in Toddlers with Autism Spectrum Disorder. Autism Res. 2020.

To improve early identification of autism spectrum disorder (ASD), we need objective, reliable, and accessible measures. To that end, a previous study demonstrated that a tablet-based application (app) that assessed several autism risk behaviors distinguished between toddlers with ASD and non-ASD toddlers. Using vocal data collected during this study, we investigated whether vocalizations uttered during administration of this app can distinguish among toddlers aged 16-31 months with typical development (TD), language or developmental delay (DLD), and ASD. Participant’s visual and vocal responses were recorded using the camera and microphone in a tablet while toddlers watched movies designed to elicit behaviors associated with risk for ASD. Vocalizations were then coded offline. Results showed that (a) children with ASD and DLD were less likely to produce words during app administration than TD participants ; (b) the ratio of syllabic vocalizations to all vocalizations was higher among TD than ASD or DLD participants ; and (c) the rates of nonsyllabic vocalizations were higher in the ASD group than in either the TD or DLD groups. Those producing more nonsyllabic vocalizations were 24 times more likely to be diagnosed with ASD. These results lend support to previous findings that early vocalizations might be useful in identifying risk for ASD in toddlers and demonstrate the feasibility of using a scalable tablet-based app for assessing vocalizations in the context of a routine pediatric visit. LAY SUMMARY : Although parents often report symptoms of autism spectrum disorder (ASD) in infancy, we are not yet reliably diagnosing ASD until much later in development. A previous study tested a tablet-based application (app) that recorded behaviors we know are associated with ASD to help identify children at risk for the disorder. Here we measured how children vocalize while they watched the movies presented on the tablet. Children with ASD were less likely to produce words, less likely to produce speechlike sounds, and more likely to produce atypical sounds while watching these movies. These measures, combined with other behaviors measured by the app, might help identify which children should be evaluated for ASD.

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18. Wintler T, Schoch H, Frank MG, Peixoto L. Sleep, brain development, and autism spectrum disorders : Insights from animal models. J Neurosci Res. 2020.

Sleep is an evolutionarily conserved and powerful drive, although its complete functions are still unknown. One possible function of sleep is that it promotes brain development. The amount of sleep is greatest during ages when the brain is rapidly developing, and sleep has been shown to influence critical period plasticity. This supports a role for sleep in brain development and suggests that abnormal sleep in early life may lead to abnormal development. Autism spectrum disorder (ASD) is the most prevalent neurodevelopmental disorder in the United States. It is estimated that insomnia affects 44%-86% of the ASD population, predicting the severity of ASD core symptoms and associated behavioral problems. Sleep problems impact the quality of life of both ASD individuals and their caregivers, thus it is important to understand why they are so prevalent. In this review, we explore the role of sleep in early life as a causal factor in ASD. First, we review fundamental steps in mammalian sleep ontogeny and regulation and how sleep influences brain development. Next, we summarize current knowledge gained from studying sleep in animal models of ASD. Ultimately, our goal is to highlight the importance of understanding the role of sleep in brain development and the use of animal models to provide mechanistic insight into the origin of sleep problems in ASD.

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19. Yoganathan S, Sharma S, Varman M, Malhotra M, Chandran M, Arunachal G, Thomas M. A Treatable Cause of Intellectual Disability and Autism in a Young Child. Indian journal of pediatrics. 2020.

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