Promoting sleep and rest of infants using nonpharmacological interventions within the neonatal intensive care unit at Children's of Mississippi.

Objective: This project aimed to promote evidence-based practices regarding the promotion of sleep and rest using nonpharmacological interventions for infants in the neonatal intensive care unit (NICU) at Children's of Mississippi.

Introduction: Sleep is a basic physiological need that plays a fundamental role in the growth and development of infants. Unfortunately, infants admitted to the NICU after birth may not receive adequate sleep and rest, especially when compared to infants discharged home after delivery.

Experiences of parents and prospective parents when receiving a diagnosis of Down syndrome for their child in the perinatal period: a qualitative systematic review protocol.

Objective: The objective of this review is to synthesize qualitative evidence regarding the experiences of parents and prospective parents when receiving a diagnosis of Down syndrome for their child in the perinatal period.

Introduction: Increased awareness of parental experiences when receiving a Down syndrome diagnosis for their child may help health care professionals provide the parental support needed to promote the best possible outcomes for these children.

Inclusion Criteria: The participants for this review are the parents and prospective parents of a child with Down syndrome.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented with global developmental delay (GDD), dysmorphic features, ophthalmologic abnormalities, and neurological features. To assess the nature of these variants, functional studies were performed in Drosophila.