1. Adlof SM, Klusek J, Hoffmann A, Chitwood KL, Brazendale A, Riley K, Abbeduto LJ, Roberts JE. {{Reading in Children With Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention}}. {Am J Intellect Dev Disabil};2018 (May);123(3):193-211.
Individuals with fragile X syndrome (FXS) present with significant deficits in reading skills, but scant research exists to understand the characteristics of the reading delays or best practices for reading instruction with this population. Study 1 examined the relationship between phonological awareness and reading skills in individuals with FXS. Study 2 evaluated the feasibility of a web-based reading intervention, which incorporated phonological awareness and phonics instruction but was originally developed for mainstream students, for children with FXS. Results suggest that phonological awareness and reading skills are correlated in this population, and that instruction targeting phonological awareness and phonics should not be ruled out for individuals with FXS. Further studies are needed to examine their potential effects.
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2. Aishworiya R, Kiing JS, Chan YH, Tung SS, Law E. {{Screen time exposure and sleep among children with developmental disabilities}}. {J Paediatr Child Health};2018 (Apr 19)
AIM: Children with developmental disabilities are at risk of excessive screen time and are more vulnerable to sleep problems. The aim of this study was to determine the extent of screen time use in children with developmental disabilities and its relationship with sleep duration. METHODS: Consecutive children aged 6-15 years diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fourth or Fifth Edition (DSM-IV or DSM-5) developmental disabilities were recruited for this study from December 2014 to April 2015. Of those recruited, 87.0% of families gave consent and provided questionnaire information on demographics and child’s screen time use and completed the Children’s Sleep Habits Questionnaire. RESULTS: Parents of 102 children in a tertiary-care developmental clinic completed the study. The mean age of children was 10 years, 1 month (standard deviation (SD), 22.7 months). The mean daily total screen time exposure was 2 h, 52.7 min (172.7 min, SD 120.8 min), with a median of 150.0 min. The mean amount of sleep per weekday was 8 h, 23.3 min (SD 64.6 min). Linear regression showed that, for every additional 9.17 min of screen time per day, sleep was reduced by 1 min (beta = -0.11, P = 0.04). Older age (beta = -0.64, P = 0.02) and living with a single parent (beta = -69.29, P = 0.003) were also associated with less sleep. CONCLUSIONS: Among children with developmental disabilities, greater daily screen time is associated with lower sleep duration. Older children and those from single-parent families are at risk of lower sleep duration. Clinicians should routinely ask about screen time exposure and sleep habits in order to provide appropriate anticipatory guidance.
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3. Bachmann CJ, Gerste B, Hoffmann F. {{Diagnoses of autism spectrum disorders in Germany: Time trends in administrative prevalence and diagnostic stability}}. {Autism};2018 (Apr);22(3):283-290.
For Germany, no data on trends in autism spectrum disorder diagnoses are available. The primary aim of this study was to establish the time trends in the administrative prevalence of autism spectrum disorder diagnoses. The second aim was to assess the stability of autism spectrum disorder diagnoses over time. We analysed administrative outpatient data (2006-2012) from a nationwide health insurance fund and calculated the prevalence of autism spectrum disorder diagnoses for each year, stratified by age and sex. Additionally, we studied a cohort with a first-time diagnosis of autism spectrum disorder in 2007 through 2012, investigating the percentage of retained autism spectrum disorder diagnoses. From 2006 to 2012, the prevalence of autism spectrum disorder diagnoses in 0- to 24-year-olds increased from 0.22% to 0.38%. In insurees with a first-time autism spectrum disorder diagnosis in 2007, this diagnosis was carried on in all years through 2012 in 33.0% (The International Classification of Diseases, Tenth Revision diagnoses: F84.0/F84.1/F84.5) and 11.2% (F84.8/F84.9), respectively. In Germany, like in other countries, there has been an increase in the administrative prevalence of autism spectrum disorder diagnoses. Yet, prevalences are still lower than in some other Western countries. The marked percentage of autism spectrum disorder diagnoses which were not retained could indicate a significant portion of autism spectrum disorder misdiagnoses, which might contribute to rising autism spectrum disorder prevalences.
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4. Bhat AN, Srinivasan SM, Woxholdt C, Shield A. {{Differences in praxis performance and receptive language during fingerspelling between deaf children with and without autism spectrum disorder}}. {Autism};2018 (Apr);22(3):271-282.
Children with autism spectrum disorder present with a variety of social communication deficits such as atypicalities in social gaze and verbal and non-verbal communication delays as well as perceptuo-motor deficits like motor incoordination and dyspraxia. In this study, we had the unique opportunity to study praxis performance in deaf children with and without autism spectrum disorder in a fingerspelling context using American Sign Language. A total of 11 deaf children with autism spectrum disorder and 11 typically developing deaf children aged between 5 and 14 years completed a fingerspelling task. Children were asked to fingerspell 15 different words shown on an iPad. We coded various praxis errors and fingerspelling time. The deaf children with autism spectrum disorder had greater errors in pace, sequence precision, accuracy, and body part use and also took longer to fingerspell each word. Additionally, the deaf children with autism spectrum disorder had poor receptive language skills and this strongly correlated with their praxis performance and autism severity. These findings extend the evidence for dyspraxia in hearing children with autism spectrum disorder to deaf children with autism spectrum disorder. Poor sign language production in children with autism spectrum disorder may contribute to their poor gestural learning/comprehension and vice versa. Our findings have therapeutic implications for children with autism spectrum disorder when teaching sign language.
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5. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. {{Paternally inherited cis-regulatory structural variants are associated with autism}}. {Science};2018 (Apr 20);360(6386):327-331.
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings. The association of paternal CRE-SVs was replicated in an independent sample of 1771 families. Our results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.
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6. Clay CJ, Bloom SE, Lambert JM. {{Behavioral Interventions for Inappropriate Sexual Behavior in Individuals With Developmental Disabilities and Acquired Brain Injury: A Review}}. {Am J Intellect Dev Disabil};2018 (May);123(3):254-282.
Inappropriate sexual behavior (ISB) is a common, but understudied, issue for individuals diagnosed with developmental disabilities (DD), intellectual disability (ID), and/or acquired brain injuries (ABI). We conducted a systematic review to identify, analyze, and synthesize published behavior-analytic approaches to intervention for ISB in DD, ID, or ABI populations. Twenty-three studies employing single-subject research methodology were identified and evaluated using quality indicators described by Horner et al. (2005) . Results of our analysis suggest insufficient evidence exists to consider any specific response-suppression technique an overarching treatment for decreasing ISB using the Horner et al. criteria. However, broadly speaking, behavior analytic approaches have been highly effective. Practitioners should consider function-based intervention and draw from studies identified as having strong supporting evidence.
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7. Klein-Tasman BP, van der Fluit F, Mervis CB. {{Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language}}. {J Autism Dev Disord};2018 (Apr 18)
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.
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8. Mandy W, Pellicano L, St Pourcain B, Skuse D, Heron J. {{The development of autistic social traits across childhood and adolescence in males and females}}. {J Child Psychol Psychiatry};2018 (Apr 19)
BACKGROUND: Autism is a dimensional condition, representing the extreme end of a continuum of social competence that extends throughout the general population. Currently, little is known about how autistic social traits (ASTs), measured across the full spectrum of severity, develop during childhood and adolescence, including whether there are developmental differences between boys and girls. Therefore, we sought to chart the trajectories of ASTs in the general population across childhood and adolescence, with a focus on gender differences. METHODS: Participants were 9,744 males (n = 4,784) and females (n = 4,960) from ALSPAC, a UK birth cohort study. ASTs were assessed when participants were aged 7, 10, 13 and 16 years, using the parent-report Social Communication Disorders Checklist. Data were modelled using latent growth curve analysis. RESULTS: Developmental trajectories of males and females were nonlinear, showing a decline from 7 to 10 years, followed by an increase between 10 and 16 years. At 7 years, males had higher levels of ASTs than females (mean raw score difference = 0.88, 95% CI [.72, 1.04]), and were more likely (odds ratio [OR] = 1.99; 95% CI, 1.82, 2.16) to score in the clinical range on the SCDC. By 16 years this gender difference had disappeared: males and females had, on average, similar levels of ASTs (mean difference = 0.00, 95% CI [-0.19, 0.19]) and were equally likely to score in the SCDC’s clinical range (OR = 0.91, 95% CI, 0.73, 1.10). This was the result of an increase in females’ ASTs between 10 and 16 years. CONCLUSIONS: There are gender-specific trajectories of autistic social impairment, with females more likely than males to experience an escalation of ASTs during early- and midadolescence. It remains to be discovered whether the observed female adolescent increase in ASTs represents the genuine late onset of social difficulties or earlier, subtle, pre-existing difficulties becoming more obvious.
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9. Matthews NL, Goldberg WA. {{Theory of mind in children with and without autism spectrum disorder: Associations with the sibling constellation}}. {Autism};2018 (Apr);22(3):311-321.
The two prior studies that have examined associations between the sibling constellation and theory of mind in autism spectrum disorder yielded discrepant findings. Thus, efforts to better understand the sibling-theory of mind link in autism spectrum disorder are necessary. This study examined a sample of prekindergarten- and kindergarten-aged (i.e. 4-6 years) typically developing children ( n = 39) and verbal children with autism spectrum disorder ( n = 61). Sibling presence, number of siblings, and having younger and older siblings were positively associated with theory of mind in typically developing children, but not in the full sample of children with autism spectrum disorder. However, in the subgroup of children with autism spectrum disorder without sibling recurrence, the presence of at least one older sibling was positively associated with theory of mind. Findings expand previous limited research on the sibling-theory of mind link in children with autism spectrum disorder by demonstrating a potential difference in the influence of the sibling constellation between children from simplex and multiplex families.
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10. Namkung EH, Greenberg JS, Mailick MR, Floyd FJ. {{Lifelong Parenting of Adults With Developmental Disabilities: Growth Trends Over 20 Years in Midlife and Later Life}}. {Am J Intellect Dev Disabil};2018 (May);123(3):228-240.
This research examined how parenting adults with developmental disabilities affects parental well-being beyond midlife and into old age. Parents of adults with developmental disabilities ( n = 249) and parents of adults without disabilities ( n = 9,016), studied in their early 50s and mid-60s, were longitudinally tracked into their early 70s. Compared to parents of adults without disabilities, parents of adults with disabilities showed a pattern of normative functioning in their 50s, followed by poorer well-being in their mid-60s, and further declines in health and well-being into the early 70s. Aging parents who co-resided with their adult child with disabilities were particularly vulnerable, experiencing a steeper increase in depressive symptoms and body mass index (BMI) than parents whose child with disabilities lived away from home.
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11. Peretti S, Mariano M, Mazzocchetti C, Mazza M, Pino MC, Verrotti Di Pianella A, Valenti M. {{Diet: the keystone of autism spectrum disorder?}}. {Nutr Neurosci};2018 (Apr 19):1-15.
Children with autism are characterized by an impairment of social interaction and repetitive patterns of behaviour. Autism is a heterogeneous span of disorders with unknown aetiology. Research has grown significantly and has suggested that environmental risk factors acting during the prenatal period could influence the neurodevelopment of offspring. The literature suggests that the maternal diet during pregnancy has a fundamental role in the etiopathogenesis of autism. Indeed, a maternal diet that is high in some nutrients has been associated with an increase or reduction in the risk of develop Autism Spectrum Disorders (ASD). The diet of ASD children is also a key factor for the worsening of ASD symptoms. Children with autism have food selectivity and limited diets due to smell, taste, or other characteristics of foods. This determines eating routines and food intake patterns, with consequent deficiency or excess of some aliments. Several studies have tried to show a possible relationship between nutritional status and autism. In this review we describe, emphasizing the limits and benefits, the main current empirical studies that have examined the role of maternal diet during gestation and diet of ASD children as modifiable risk factors at the base of development or worsening of symptoms of autism.
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12. Qiu S, Li Y, Li Y, Zhong W, Shi M, Zhao Q, Zhang K, Wang Y, Lu M, Zhu X, Jiang H, Yu Y, Cheng Y, Liu Y. {{Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder}}. {Gene};2018 (Apr 20);651:100-105.
Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD. We investigated the association between polymorphisms in SHANK3 and ASD in the Northeast Han Chinese population. A total of 470 subjects (229 cases and 241 controls) were enrolled in our case-control study. Five single nucleotide polymorphisms (SNPs) (rs756638, rs4824116, rs76268556, rs9616915, and rs75767639) in SHANK3 were selected and genotyped. Our study did not identify a significant association of SHANK3 SNPs with ASD in the Northeast Han Chinese population. Future studies need to test more SHANK3 SNPs in large sample to demonstrate the association between SNPs in SHANK3 and ASD.
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13. Sacrey LR, Bryson S, Zwaigenbaum L, Brian J, Smith IM, Roberts W, Szatmari P, Vaillancourt T, Roncadin C, Garon N. {{The Autism Parent Screen for Infants: Predicting risk of autism spectrum disorder based on parent-reported behavior observed at 6-24 months of age}}. {Autism};2018 (Apr);22(3):322-334.
This study examined whether a novel parent-report questionnaire, the Autism Parent Screen for Infants, could differentiate infants subsequently diagnosed with autism spectrum disorder from a high-risk cohort (siblings of children diagnosed with autism spectrum disorder (n = 66)) from high-risk and low-risk comparison infants (no family history of autism spectrum disorder) who did not develop autism spectrum disorder (n = 138 and 79, respectively). Participants were assessed prospectively at 6, 9, 12, 15, 18, and 24 months of age. At 36 months, a blind independent diagnostic assessment for autism spectrum disorder was completed. Parent report on the Autism Parent Screen for Infants was examined in relation to diagnostic outcome and risk status (i.e. high-risk sibling with autism spectrum disorder, high-risk sibling without autism spectrum disorder, and low-risk control). The results indicated that from 6 months of age, total score on the Autism Parent Screen for Infants differentiated between the siblings with autism spectrum disorder and the other two groups. The sensitivity, specificity, and positive and negative predictive validity of the Autism Parent Screen for Infants highlight its potential for the early screening of autism spectrum disorder in high-risk cohorts.
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14. Shire SY, Shih W, Chang YC, Kasari C. {{Short Play and Communication Evaluation: Teachers’ assessment of core social communication and play skills with young children with autism}}. {Autism};2018 (Apr);22(3):299-310.
Children with autism spectrum disorder experience delays in the development of nonverbal social communication gestures to request and to share (joint attention) as well as play skills such that intervention is required. Although such tools exist in research settings, community stakeholders also require access to brief, simple, and reliable tools to assess students’ skills and set appropriate intervention targets. This study includes a sequence of two trials to examine implementation outcomes including adoption, fidelity, and feasibility of The Short Play and Communication Evaluation by educational professionals who work with preschoolers and toddlers with autism spectrum disorder in low-resource community classrooms. Findings demonstrate that classroom staff can deliver the Short Play and Communication Evaluation with high fidelity, collect live data, and set appropriate social communication and play skill targets for use in intervention. Furthermore, study 2 demonstrates that modifications to the study protocol resolved differences in children’s skill profile obtained from the established research measures.
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15. Sukenik N, Friedmann N. {{ASD Is Not DLI: Individuals With Autism and Individuals With Syntactic DLI Show Similar Performance Level in Syntactic Tasks, but Different Error Patterns}}. {Front Psychol};2018;9:279.
Do individuals with autism have a developmental syntactic impairment, DLI (formerly known as SLI)? In this study we directly compared the performance of 18 individuals with Autism Spectrum Disorder (ASD) aged 9;0-18;0 years with that of 93 individuals with Syntactic-Developmental Language Impairment (SyDLI) aged 8;8-14;6 (and with 166 typically-developing children aged 5;2-18;1). We tested them using three syntactic tests assessing the comprehension and production of syntactic structures that are known to be sensitive to syntactic impairment: elicitation of subject and object relative clauses, reading and paraphrasing of object relatives, and repetition of complex syntactic structures including Wh questions, relative clauses, topicalized sentences, sentences with verb movement, sentences with A-movement, and embedded sentences. The results were consistent across the three tasks: the overall rate of correct performance on the syntactic tasks is similar for the children with ASD and those with SyDLI. However, once we look closer, they are very different. The types of errors of the ASD group differ from those of the SyDLI group-the children with ASD provide various types of pragmatically infelicitous responses that are not evinced in the SyDLI or in the age equivalent typically-developing groups. The two groups (ASD and SyDLI) also differ in the pattern of performance-the children with SyDLI show a syntactically-principled pattern of impairment, with selective difficulty in specific sentence types (such as sentences derived by movement of the object across the subject), and normal performance on other structures (such as simple sentences). In contrast, the ASD participants showed generalized low performance on the various sentence structures. Syntactic performance was far from consistent within the ASD group. Whereas all ASD participants had errors that can originate in pragmatic/discourse difficulties, seven of them had completely normal syntax in the structures we tested, and were able to produce, understand, and repeat relative clauses, Wh questions, and topicalized sentences. Only one ASD participant showed a syntactically-principled deficit similar to that of individuals with SyDLI. We conclude that not all individuals with ASD have syntactic difficulties, and that even when they fail in a syntactic task, this does not necessarily originate in a syntactic impairment. This shows that looking only at the total score in a syntactic test may be insufficient, and a fuller picture emerges once the performance on different structures and the types of erroneous responses are analyzed.
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16. Vallianatos CN, Farrehi C, Friez MJ, Burmeister M, Keegan CE, Iwase S. {{Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability}}. {Front Mol Neurosci};2018;11:104.
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), which are enriched in transcriptionally engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation. Most mutations functionally tested to date result in reduced enzymatic activity of KDM5C, indicating loss of demethylase function as the primary mechanism underlying MRXSCJ. Here, we report a novel KDM5C mutation, R1115H, identified in an individual displaying MRXSCJ-like symptoms. The carrier mother’s cells exhibited a highly skewed X-inactivation pattern. The KDM5C-R1115H substitution does not have an impact on enzymatic activity nor protein stability. However, when overexpressed in post-mitotic neurons, KDM5C-R1115H failed to fully suppress expression of target genes, while the mutant also affected expression of a distinct set of genes compared to KDM5C-wildtype. These results suggest that KDM5C may have non-enzymatic roles in gene regulation, and alteration of these roles contributes to MRXSCJ in this patient.
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17. Williams DM, Bergstrom Z, Grainger C. {{Metacognitive monitoring and the hypercorrection effect in autism and the general population: Relation to autism(-like) traits and mindreading}}. {Autism};2018 (Apr);22(3):259-270.
Among neurotypical adults, errors made with high confidence (i.e. errors a person strongly believed they would not make) are corrected more reliably than errors made with low confidence. This ‘hypercorrection effect’ is thought to result from enhanced attention to information that reflects a ‘metacognitive mismatch’ between one’s beliefs and reality. In Experiment 1, we employed a standard measure of this effect. Participants answered general knowledge questions and provided confidence judgements about how likely each answer was to be correct, after which feedback was given. Finally, participants were retested on all questions answered incorrectly during the initial phase. Mindreading ability and autism spectrum disorder-like traits were measured. We found that a representative sample of ( n = 83) neurotypical participants made accurate confidence judgements (reflecting good metacognition) and showed the hypercorrection effect. Mindreading ability was associated with autism spectrum disorder-like traits and metacognition. However, the hypercorrection effect was non-significantly associated with mindreading or autism spectrum disorder-like traits. In Experiment 2, 11 children with autism spectrum disorder and 11 matched comparison participants completed the hypercorrection task. Although autism spectrum disorder children showed significantly diminished metacognitive ability, they showed an undiminished hypercorrection effect. The evidence in favour of an undiminished hypercorrection effect (null result) was moderate, according to Bayesian analysis (Bayes factor = 0.21).
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18. Zwart FS, Vissers C, Kessels RPC, Maes JHR. {{Implicit learning seems to come naturally for children with autism, but not for children with specific language impairment: Evidence from behavioral and ERP data}}. {Autism Res};2018 (Apr 20)
Autism spectrum disorder (ASD) and specific language impairment (SLI) are two neurodevelopmental disorders characterized by deficits in verbal and nonverbal communication skills. These skills are thought to develop largely through implicit-or automatic-learning mechanisms. The aim of the current paper was to investigate the role of implicit learning abilities in the atypical development of communication skills in ASD and SLI. In the current study, we investigated Response Times (RTs) and Event Related Potentials (ERPs) during implicit learning on a Serial Reaction Time (SRT) task in a group of typically developing (TD) children (n = 17), a group of autistic children (n = 16), and a group of children with SLI (n = 13). Findings suggest that learning in both ASD and SLI are similar to that in TD. However, electrophysiological findings suggest that autistic children seem to rely mainly on more automatic processes (as reflected by an N2b component), whereas the children with SLI seem to rely on more controlled processes (as reflected by a P3 component). The TD children appear to use a combination of both learning mechanisms. These findings suggest that clinical interventions should aim at compensating for an implicit learning deficit in children with SLI, but not in children with ASD. Future research should focus on developmental differences in implicit learning and related neural correlates in TD, ASD, and SLI. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Autism and Specific Language Impairment (SLI) are two disorders characterized by problems in social communication and language. Social communication and language are believed to be learned in an automatic way. This is called « implicit learning. » We have found that implicit learning is intact in autism. However, in SLI there seems different brain activity during implicit learning. Maybe children with SLI learn differently, and maybe this different learning makes it more difficult for them to learn language.
