We are performing whole genome sequencing (WGS) of families with Autism Spectrum Disorder (ASD) to build a resource, named MSSNG, to enable the sub-categorization of phenotypes and underlying genetic factors involved. Here, we report WGS of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible in a cloud platform, and through an internet portal with controlled access. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertion/deletions (indels) or copy number variations (CNVs) per ASD subject. We identified 18 new candidate ASD-risk genes such as MED13 and PHF3, and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (p=6×10−4). In 294/2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried CNV/chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.
Developmental changes in the human brain coincide with and underlie changes in a wide range of motor and cognitive abilities. Neuroimaging studies have shown that musical training can result in structural and functional plasticity in the brains of musicians, and that this plasticity is greater for those who begin training early in life. However, previous studies have not controlled for differences between early-trained (ET) and late-trained (LT) musicians in the total number of years of musical training and experience. In the present experiment, we tested musicians who began training before and after the age of 7 on learning of a timed motor sequence task. The groups were matched for years of musical experience, years of formal training and hours of current practice. Results showed that ET musicians performed better than LT musicians, and that this performance advantage persisted after 5 days of practice. Performance differences were greatest for a measure of response synchronization, suggesting that early training has its greatest effect on neural systems involved in sensorimotor integration and timing. These findings support the idea that there may be a sensitive period in childhood where enriched motor training through musical practice results in long-lasting benefits for performance later in life. These results are also consistent with the results of studies showing structural changes in motor-related regions of the brain in musicians that are specifically related to training early in life.
The present study assessed the effects of amount of practice and length of delay on the learning and retention of a timed motor sequence task. Participants learned to reproduce ten-element visual sequences by tapping in synchrony with the stimulus. Participants were randomly assigned to a varied-practice condition or a varied-delay condition. In the varied-practice condition, participants received either one, three, or six blocks of practice followed by a fixed 4-week delayed-recall. In the varied-delay condition, participants received three blocks of practice followed by a varied delay of either 3 days, or 2, 4, or 8 weeks. Learning was assessed by changes in accuracy, response variance, and percent response asynchrony. Our results showed that amount of practice per se did not affect learning and retention of the task. Rather, distribution of practice over several days was the most important factor affecting learning and retention. We hypothesize that passage of time is essential for a maximum benefit of practice to be gained, as the time delay may allow for consolidation of learning, possibly reflecting plastic changes in motor cortical representations of the skill. With regards to delay, our findings suggest that explicit and motoric components of a motor sequence are likely to be learned and maintained in separate but interacting systems. First, only the longest delay group showed decrements in percent correct, indicating that longer lengths of delay might hinder retrieval of explicit aspects of the task. Second, all groups showed a decrement in percent response asynchrony, suggesting that synchronization may be a more difficult parameter to maintain because it relies heavily on sensorimotor integration.
Little is known about how children acquire new motor sequences. In particular, it is not clear if the same learning progression observed in adults is also present in childhood nor whether motor skills are acquired in a similar fashion across development. In the present study we used the multi-finger sequencing task (MFST), a variant of the serial reaction time (SRT) task, to study motor sequence learning, across two consecutive days, in three cross-sectional samples of children aged 6, 8, and 10 years, and a control sample of adults. In the MFST, participants reproduced 10-element sequences of key presses on an electronic keyboard, using four fingers of the right hand. Each block of practice included 10 intermixed trials of a Repeated (REP) sequence and four trials of Random (RAN) sequences. Performance was assessed by examining changes in accuracy, a component of the task that requires the association of the visual stimulus with the motor response, and response synchronization, a component that requires fine-grained sensorimotor integration and timing. Additionally, participants completed Recognition and Recall tests, to assess explicit knowledge of the repeated sequence. Overall, results showed a developmental progression in motor sequence learning within and across days of practice. Interestingly, the two behavioral measures showed different developmental trajectories. For accuracy, differences were greatest for the two youngest groups early in learning, and these groups also showed the greatest rate of improvement. However, by the end of Day 2, only the 6-year-olds still lagged behind all other groups. For response synchronization, all child groups differed from adults early in learning, but both child and adult groups showed similar rates of improvement across blocks of practice. By the end of Day 2, 10-year-olds reached adult levels of performance, whereas 6- and 8-year-olds did not. Taken together, the dissociation observed with our two behavioral measures of sequence learning is consistent with the hypothesis that accuracy or finger-stimulus association may rely on cortical pathways that show the greatest maturation between ages 6 and 10; whereas motor timing and sensorimotor integration may rely on subcortical pathways that continue to develop into young adulthood. Despite developmental differences across blocks of practice on both behavioral measures, there were no significant group differences for either the Recognition or Recall tests. We suggest that explicit knowledge of the MFST is not directly linked to task performance, thus challenging the implicit-explicit distinction in pediatric SRT studies assessing the developmental invariance model.
Most research regarding youth with autism spectrum disorder has not focused on their first-person perspectives providing limited insight into methodologies best suited to eliciting their voices. We conducted a synthesis of methods previously used to obtain the first-person perspectives of youth with various disabilities, which may be applicable to youth with autism spectrum disorder. Two-hundred and eighty-four articles met the inclusion criteria of our scoping review. We identified six distinct primary methods (questionnaires, interviews, group discussion, narratives, diaries, and art) expressed through four communication output modalities (language, sign language and gestures, writing, and images). A group of parents who have children with autism spectrum disorder were then presented with a synthesis of results. This parent consultation was used to build on approaches identified in the literature. Parents identified barriers that may be encountered during participant engagement and provided insights on how best to conduct first-person research with youth with autism spectrum disorder. Based on our findings, we present a novel methodological framework to capture the perspectives of youth with various communication and cognitive abilities, while highlighting family, youth, and expert contributions.
The contextual interference hypothesis proposes that when learning multiple skills, massing practice leads to better within-day acquisition, whereas random practice leads to better retention and transfer. In this experiment, we examined the effect of practice pattern on the learning, consolidation (retention), and transfer of visual-motor sequences. On Day 1, participants were randomly assigned to the Massed, Alternating, or Random condition. On Day 2, all participants were tested for consolidation and transfer. Learning was assessed through changes in accuracy and response synchronization. We found that massed practice led to enhanced sensorimotor integration and timing (as measured by response synchronization), whereas random practice led to better stimulus-response association (as measured by accuracy). On day 2, all groups showed consolidation for both measures, as well as transfer for accuracy but not response synchronization. Overall, this pattern of results provides limited support for the contextual interference hypothesis. Our findings are consistent with differential encoding of specific domains of motor performance. We propose that learning of the more explicit stimulus-response association is a fast process that benefits from random practice because it requires the acquisition of this association in multiple contexts. Once the association is learned, it seems resistant to interference and transferrable to a novel sequence. In contrast, learning of the sensorimotor integration and timing is a slower process that benefits from blocked training because practice in a single context allows fine-tuning of the response. Given that all groups showed consolidation, we postulate that learning that occurs in the context of interference can show consolidation.
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