Parent Reports of Developmental Service Utilization After Newborn Screening.

Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services. Potential developmental services in the United States include Part C Early Intervention (EI), private therapies, and school-based services. Using parent-reported outcomes, this study examined the rates at which a sample of children diagnosed with NBS conditions used each developmental service.

Adaptive Just-in-Time Intervention to Reduce Everyday Stress Responses: Protocol for a Randomized Controlled Trial.

Background: Personalized approaches to behavior change to improve mental and physical health outcomes are needed. Reducing the intensity, duration, and frequency of stress responses is a mechanism for interventions to improve health behaviors. We developed an ambulatory, dynamic stress measurement approach that can identify personalized stress responses in the moments and contexts in which they occur; we propose that intervening in these stress responses as they arise (ie, just in time; JIT) will result in positive impacts on health behaviors.

Stigma and the Inverse Care Law: Experiences of 'Care' for People Living in Marginalised Conditions.

This paper explores the connection between stigma and the Inverse Care Law (ICL) by focussing on the idea that people who have the greatest needs often have the least support from healthcare services. Twenty-four semi-structured interviews were undertaken with people who used class A & B illicit drugs, in the northeast of England. Many of the people in this study who used illicit drugs were not able to access quality healthcare in a timely way to meet their needs because of structural and relational stigma.

Applications of genome sequencing as a single platform for clinical constitutional genetic testing.

The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including the utilization of exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing.