A novel 'social contract' - An attempt to harmonize a sponsor's exploratory research with a clinical study participant's data rights.

BACKGROUND: Pharmaceutical drug development rarely addresses a study participant's control of their genomic data, how to return individual incidental findings, and how to make use of genomic data more efficiently for exploratory research purposes. Mutually beneficial solutions to these issues are needed, as whole genome sequencing (WGS) is increasingly adopted in human research and as access to such information could provide impactful health-related information for a participant. METHODS: In this paper, we offer a novel framework to align a trial sponsor's need for broad exploratory research of the human genome with the study participant's right to data access and access control. The Exploratory Genetic Research Project (EGRP) aims to gather WGS on all participants of a sponsor's clinical trials. It is set up as a separate umbrella protocol to facilitate the consenting process, as well as the delineation between clinical trial endpoints versus exploratory future research. CONCLUSION: This concept establishes a participant's autonomy regarding access to genomic data and the disclosure of actionable incidental findings. The feasibility of EGRP will be tested and reassessed as it is deployed over the next few years.

Joint engagement modulates object discrimination in toddlers: a pilot electrophysiological investigation.

Joint engagement (JE) is a state in which two people attend to a common target. By supporting an infant's attention to the target, JE promotes encoding of information. This process has not been studied in toddlers despite the fact that language and social interaction develop rapidly in this period. We asked whether JE modulates object discrimination in typically developing toddlers. In a pilot evaluation of a novel, naturalistic paradigm, toddlers (n = 11) were introduced to toys by an examiner with or without JE. Toddlers then viewed images of the toys while high-density electroencephalography (EEG) was recorded. Analysis focused on the differential neural response to objects presented in the two conditions. EEG components of interest included frontal positive component (Pb), negative component (Nc), and positive slow wave. Toddlers discriminated between conditions with a larger Pb peak amplitude to stimuli presented with JE and a larger Nc mean amplitude to the stimuli presented without JE, reflecting greater familiarity with the toys presented socially. Our findings suggest that JE supports object learning in toddlers, and supports the potential utility of this novel paradigm in both the assessment and the potential to detect impairment in social learning among toddlers.

Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature.

BACKGROUND: A reliable diagnosis of autism can be made as early as 24 months, yet in many children diagnoses are made much later. A delay in diagnosis translates into a missed opportunity to provide early intervention services and to improve outcomes. The aim of the current study was to review the literature on early detection approaches in primary care and other community settings in the United States. METHODS: A search was conducted of the peer-reviewed and gray literature to identify studies published from January 1990 through January 2013 testing approaches to enhance the early detection of autism in community settings in the United States. RESULTS: The search identified 40 studies describing 35 approaches, which were grouped into the following categories: awareness (n = 4), routine screening (n = 21), and practice improvement to enhance screening (n = 10). Awareness approaches were associated with positive changes in knowledge of autism-related topics. Routine screening yielded high or increased rates of screening and referrals; however, few studies assessed the effect of screening on age at diagnosis or services enrollment. Practice improvement approaches resulted in increased screening and referral rates and highlighted the importance of adopting a multipronged approach to enhance early detection. CONCLUSIONS: Although studies that tested screening approaches in community settings found positive results, the effectiveness of such efforts on reducing time to diagnosis and services enrollment remains largely untested. The fact that few studies reported outcomes beyond rates of referral indicates the need for enhanced methodological rigor, particularly with respect to length of follow-up and quality of measures used.

The impact of parent-delivered intervention on parents of very young children with autism.

This study investigated the impact of a parent-coaching intervention based on the Early Start Denver Model (P-ESDM) on parenting-related stress and sense of competence. This was part of a multisite, randomized trial comparing P-ESDM (n = 49) with community intervention (n = 49) for children aged 12 and 24 months. The P-ESDM group reported no increase in parenting stress, whereas the Community group experienced an increase over the same 3-month period. Parental sense of competence did not differ. Number of negative life events was a significant predictor of parenting stress and sense of competence across both groups. This suggests that a parent-coaching intervention may help maintain parental adjustment directly after a child is diagnosed with ASD.

The association between parental interaction style and children's joint engagement in families with toddlers with autism.

PURPOSE: This study examines the relationship between parental interaction style (responsive vs directive) and child-initiated joint engagement within caregiver-child interactions with toddlers diagnosed with autism spectrum disorders. METHOD: Videotaped interactions of 85 toddler-caregiver dyads were coded for child engagement and both parental responsiveness and directiveness. RESULTS: Altogether, children spent less than one-third of the interaction jointly engaged. After controlling for child characteristics, parental style was associated with the initiator (child or parent) of joint engagement. Specifically, responsiveness predicted total time in child-initiated joint engagement, while directiveness predicted total time in parent-initiated joint engagement. Children's social behaviours were associated with child-initiated joint engagement. DISCUSSION: Social initiations are a key target for children with autism spectrum disorders. Results demonstrate that child initiations and global social behaviour ratings are associated with parental responsivity. Responsivity may be a critical factor to facilitate children's initiations.

Head circumference as an early predictor of autism symptoms in younger siblings of children with autism spectrum disorder.

Siblings of children with autism have an increased risk for autism spectrum disorders (ASD). As children with autism often exhibit an atypical trajectory of head circumference (HC) growth, HC may be an indicator of vulnerability to autism. This study investigated whether infant siblings of children with ASD (n = 77) with an atypical trajectory of HC growth were more likely than those without an atypical HC trajectory to develop autism symptoms. Results showed that infants who had larger HC at 12 months, and whose HC growth rate decelerated more rapidly between 12 and 24 months were more likely to exhibit autism symptoms than infants with more typical HC trajectories. Among infant siblings of children with autism, atypical HC growth might alert pediatricians to provide screening and/or referral for further evaluation.