Autism-associated SNPs in the clock genes _npas2_, _per1_ and the homeobox gene _en2_ alter DNA sequences that show characteristics of microRNA genes.

Intronic single nucleotide polymorphisms (SNPs) in the clock genes _npas2_ and _per1_ and the homeobox gene _en2_ are reported to be associated with autism. This bioinformatics analysis of the intronic regions which contain the autism-associated SNPs rs1861972 and rs1861973 in _en2_, rs1811399 in _npas2_, and rs885747 in _per1_, shows that these regions encode RNA transcripts with predicted structural characteristics of microRNAs. These microRNA-like structures are disrupted _in silico_ by the presence of the autism enriched alleles of rs1861972, rs1861973, rs1811399 and rs885747 specifically, as compared with the minor alleles of these SNPs. The predicted gene targets of these microRNA-like structures include genes reported to be implicated in autism (_gabrb3_, _shank3_) and genes causative of diseases co-morbid with autism (_mecp2_ and _rai1_). The inheritance of the AC haplotype of rs1861972 - rs1861973 in _en2_, the C allele of rs1811399 in _npas2_, and the C allele of rs1234747 in _per1_ may contribute to the causes of autism by affecting microRNA genes that are co-expressed along with the homeobox gene _en2_ and the circadian genes _npas2_ and _per1_

Knowledge acquisition and research evidence in autism:researcher and practitioner perspectives and engagement

Background: Government policy and national practice guidelines have created an increasing need for autism services to adopt an evidence-based practice approach. However, a gap continues to exist between research evidence and its application. This study investigated the difference between autism researchers and practitioners in their methods of acquiring knowledge. Methods: In a questionnaire study, 261 practitioners and 422 researchers reported on the methods they use and perceive to be beneficial for increasing research access and knowledge. They also reported on their level of engagement with members of the other professional community. Results: Researchers and practitioners reported different methods used to access information. Each group, however, had similar overall priorities regarding access to research information. While researchers endorsed the use of academic journals significantly more often than practitioners, both groups included academic journals in their top three choices. The groups differed in the levels of engagement they reported; researchers indicated they were more engaged with practitioners than vice versa. Conclusions: Comparison of researcher and practitioner preferences led to several recommendations to improve knowledge sharing and translation, including enhancing access to original research publications, facilitating informal networking opportunities and the development of proposals for the inclusion of practitioners throughout the research process

Rhythmic Relating : Bidirectional support for social timing in autism therapies

We propose Rhythmic Relating for autism: a system of supports for friends, therapists, parents, and educators; a system which aims to augment bidirectional communication and complement existing therapeutic approaches. We begin by summarizing the developmental significance of social timing and the social-motor-synchrony challenges observed in early autism. Meta-analyses conclude the early primacy of such challenges, yet cite the lack of focused therapies. We identify core relational parameters in support of social-motor-synchrony and systematize these using the communicative musicality constructs: pulse; quality; and narrative. Rhythmic Relating aims to augment the clarity, contiguity, and pulse-beat of spontaneous behavior by recruiting rhythmic supports (cues, accents, turbulence) and relatable vitality; facilitating the predictive flow and just-ahead-in-time planning needed for good-enough social timing. From here, we describe possibilities for playful therapeutic interaction, small-step co-regulation, and layered sensorimotor integration. Lastly, we include several clinical case examples demonstrating the use of Rhythmic Relating within four different therapeutic approaches (Dance Movement Therapy, Improvisational Music Therapy, Play Therapy, and Musical Interaction Therapy). These clinical case examples are introduced here and several more are included in the Supplementary Material (Examples of Rhythmic Relating in Practice). A suite of pilot intervention studies is proposed to assess the efficacy of combining Rhythmic Relating with different therapeutic approaches in playful work with individuals with autism. Further experimental hypotheses are outlined, designed to clarify the significance of certain key features of the Rhythmic Relating approach

Receiving an assessment and a potential diagnosis on the autism spectrum : a thematic content analysis of parental experiences

Having a child assessed for a possible diagnosis on the autism spectrum is a significant challenge for parents and it is important that research continues to be conducted to evaluate how parents feel about the process and what might be done to enhance this. National guidance on diagnostic assessment and autism have been produced (eg NAPC, 2003 and SIGN, 2007) and the National Institute of Clinical Excellence has also very recently published guidance on this. This paper explores the experiences of eight families living in North Wales on the diagnostic assessment process they experienced by two different teams. They were interviewed two years after the assessment which created the opportunity to ascertain how they felt about the support which followed too

Rhythmic Relating: Bidirectional support for social timing in autism therapies

We propose Rhythmic Relating for autism: a system of supports for friends, therapists, parents, and educators; a system which aims to augment bidirectional communication and complement existing therapeutic approaches. We begin by summarizing the developmental significance of social timing and the social-motor-synchrony challenges observed in early autism. Meta-analyses conclude the early primacy of such challenges, yet cite the lack of focused therapies. We identify core relational parameters in support of social-motor-synchrony and systematize these using the communicative musicality constructs: pulse; quality; and narrative. Rhythmic Relating aims to augment the clarity, contiguity, and pulse-beat of spontaneous behavior by recruiting rhythmic supports (cues, accents, turbulence) and relatable vitality; facilitating the predictive flow and just-ahead-in-time planning needed for good-enough social timing. From here, we describe possibilities for playful therapeutic interaction, small-step co-regulation, and layered sensorimotor integration. Lastly, we include several clinical case examples demonstrating the use of Rhythmic Relating within four different therapeutic approaches (Dance Movement Therapy, Improvisational Music Therapy, Play Therapy, and Musical Interaction Therapy). These clinical case examples are introduced here and several more are included in the Supplementary Material (Examples of Rhythmic Relating in Practice). A suite of pilot intervention studies is proposed to assess the efficacy of combining Rhythmic Relating with different therapeutic approaches in playful work with individuals with autism. Further experimental hypotheses are outlined, designed to clarify the significance of certain key features of the Rhythmic Relating approach

What facilitates social engagement in preschool children with autism?

We studied the association between an adult’s behavior and episodes of social engagement (ESEs) in young children with autism during play-based assessment. ESEs were defined as events in which a child looked toward the adult’s face and simultaneously showed an additional form of communicative behavior. The adult’s behavior before each ESE, and before time-sampled control periods, was rated using Coding Active Sociability in Preschoolers with Autism (CASPA). As predicted, adult musical/motoric activity, communications that followed the child’s focus of attention, scaffolding through social routines, imitations of the child, and adult repetitions were significantly more prevalent before ESEs, but cognitive assessment activities, adult inactivity, and “ignoring” were significantly less prevalent. We consider the implications for understanding the developmental psychopathology of autism