Developing cortex generates endogenous activity that modulates the formation of functional units, but how this activity is altered to support mature function is poorly understood. Using recordings from the visual cortex of preterm human infants and neonatal rats, we report a novel “bursting” period of visual responsiveness during which the weak retinal output is amplified by endogenous network oscillations, enabling a primitive form of vision. This period ends shortly before delivery in humans and eye-opening in rodents with an abrupt switch to the mature visual response. The switch is causally linked to the emergence of an activated state of continuous cortical activity dependent on the ascending neuromodulatory systems involved in arousal. This switch is sensory-system specific but experience-independent, and also involves maturation of retinal processing. Thus the early development of visual processing is governed by a conserved, intrinsic program that switches thalamocortical response properties in anticipation of patterned vision.

The hepatocyte nuclear factor-1␤ encoded by the TCF2 gene plays a role for the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic development of these organs. TCF2 mutations are known to be responsible for the maturity-onset diabetes of the young type 5 associated with renal manifestations. Several observations have suggested that TCF2 mutations may be involved in restricted renal phenotypes. Eighty children (median age at diagnosis 0.2 yr) with renal cysts, hyperechogenicity, hypoplasia, or single kidneys were studied. Quantitative multiplex PCR amplification of short fluorescence fragments for the search of large genomic rearrangements and sequencing for the detection of point mutations were performed. TCF2 anomalies were detected in one third of patients (25 of 80). The main alteration was the complete deletion of the TCF2 gene detected in 16 patients. Family screening revealed de novo TCF2 anomalies in nine of 17 probands with a high prevalence of deletions (seven of nine). TCF2 anomalies were associated with bilateral renal anomalies (P < 0.001) and bilateral cortical cysts (P < 0.001). However, abnormal renal function, detected in 40% of patients, was independent of the TCF2 genotype. No difference in renal function or severity of renal morphologic lesions was observed between patients with a TCF2 deletion and those with point mutations. In conclusion, TCF2 molecular anomalies are involved in restricted renal phenotype in childhood without alteration of glucose metabolism. These findings have important implications in the diagnosis of patients with renal dysplasia with cysts and their follow-up.

BackgroundDuring the first weeks of hospitalization, premature babies and their parents encounter difficulties in establishing early bonds and interactions. Only a few studies have explored what caregivers can do to meet parents' needs in relation to these interactions and help optimize them. This study sought to explore parents' perception of these first interactions and to identify the actions of caregivers that help or hinder its development.MethodsProspective study, qualitative discourse analysis of 60 face-to-face interviews conducted with 30 mothers and 30 fathers of infants born before 32 weeks of gestation (mean ± SD: 27 ± 2 weeks of gestational age), during their child's stay in one out of three NICUs in France. Interviews explored parental experience, from before birth up to the first month of life.ResultsData analysis uncovered two main themes, which were independent of parents' geographical or cultural origin but differed between mothers and fathers. First, fathers described the bond with their child as composed more of words and looks and involving distance, while mothers experienced the bond more physically. Secondly, two aspects of the caregivers' influence were decisive: nurses' caring attitude towards baby and parents, and their communication with parents, which reduced stress and made interactions with the baby possible. This communication appeared to be the locus of a supportive and fulfilling encounter between parents and caregivers that reinforced parents' perception of a developing bond.ConclusionsAt birth and during the first weeks in the NICU, the creation of a bond between mothers and fathers and their premature baby is rooted in their relationship with the caregivers. Nurses' caring attitude and regular communication adapted to specific needs are perceived by parents as necessary preconditions for parents' interaction and development of a bond with their baby. These results might allow NICU staff to provide better support to parents and facilitate the emergence of a feeling of parenthood.