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Prematurity is becoming a real public health issue as more and more children are being born prematurely, alongside a higher prevalence of neurodevelopmental disorders. Early intervention programs in Neonatal Intensive Care Units (NICUs) correspond to these uni- or multi-sensorial solicitations aiming to prevent and detect complications in order to support the development of preterm infants. This article aims to distinguish sensory intervention programs according to the gradient of the type of solicitations, uni- or multi-modal, and according to the function of the person who performs these interventions. Uni-sensorial interventions are essentially based on proprioceptive, gustatory, or odorant solicitations. They allow, in particular, a reduction of apneas that support the vegetative states of the preterm infant. On the other hand, the benefits of multi-sensory interventions seem to have a longer-term impact. Most of them allow the support of the transition from passive to active feeding, an increase in weight, and the improvement of sleep-wake cycles. These solicitations are often practiced by caregivers, but the intervention of parents appears optimal since they are the main co-regulators of their preterm child’s needs. Thus, it is necessary to co-construct and train the parents in this neonatal care.

We report two children, born from consanguineous parents, who presented with early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness. Polarographic and spectrophotometric analyses in fibroblasts and liver revealed a respiratory chain (RC) dysfunction. Surprisingly, we identified a homozygous nonsense mutation in the GM3 synthase gene by using exome sequencing. GM3 synthase catalyzes the formation of GM3 ganglioside from lactosylceramide, which is the first step in the synthesis of complex ganglioside species. Mass spectrometry analysis revealed that the complete absence of GM3 ganglioside and its biosynthetic derivatives was associated with an upregulation of the alternative globoside pathway in fibroblasts. The accumulation of Gb3 and Gb4 globosides likely has a role in RC dysfunction and in the decrease of mitochondrial membrane potential leading to apoptosis, which we observed in fibroblasts. We show for the first time that GM3 synthase deficiency, responsible for early-onset epilepsy syndrome, leads to a secondary RC dysfunction. Our study highlights the role of secondary mitochondrial disorders that can interfere with the diagnosis and the evolution of other metabolic diseases.

When an incurable fetal condition is detected, some women (or couples) would rather choose to continue with the pregnancy than opt for termination of pregnancy for medical reasons, which, in France, can be performed until full term. Such situations are frequently occurring and sometimes leading to the implementation of neonatal palliative care. The objectives of this study were to evaluate the practices of perinatal care french professionals in this context; to identify the potential obstacles that might interfere with the provision of an appropriate neonatal palliative care; and, from an opposite perspective, to determine the criteria that led, in some cases, to offer this type of care for prenatally diagnosed lethal abnormality. We used an email survey sent to 434 maternal-fetal medicine specialists (MFMs) and fetal care pediatric specialists (FCPs) at 48 multidisciplinary centers for prenatal diagnosis (MCPD). Forty-two multidisciplinary centers for prenatal diagnosis (87.5%) took part. In total, 102 MFMs and 112 FCPs completed the survey, yielding response rate of 49.3%. One quarter of professionals (26.2%) estimated that over 20% of fetal pathologies presenting in MCPD could correspond to a diagnosis categorized as lethal (FCPs versus MFMs: 24% vs 17.2%, p = 0.04). The mean proportion of fetal abnormalities eligible for palliative care at birth was estimated at 19.30% (± 2.4) (FCPs versus MFMs: 23.4% vs 15.2%, p = 0.029). The degree of diagnostic certainty appears to be the most influencing factor (98.1%, n = 207) in the information provided to the pregnant woman with regard to potential neonatal palliative care. The vast majority of professionals, 92.5%, supported considering the practice of palliative care as a regular option to propose antenatally. Our study reveals the clear need for training perinatal professionals in perinatal palliative care and for the standardization of practices in this field.

Parents with a sick child in a neonatal intensive care unit (NICU) usually experience stress, anxiety, and vulnerability. These precarious feelings can affect early parent–child interactions and have consequences for the child’s neurodevelopment. Parents who have had a sick child in an NICU (veteran parents) can offer helpful interventions for these vulnerable families. This article is a scoping review of parental interventions used with the families of NICU infants, and an overview of French perspectives. Two independent reviewers studied the scientific literature published in English between 2001 to 2021 using Covidence software. The databases used were MEDLINE, ISI Web of Science, the Cochrane Database, and Google Scholar. Themes were identified from the articles’ results using an open coding approach. The data are presented in a narrative format. Ten articles were included, and four major themes addressed: (1) description of activities, (2) recommendations, (3) impact, and (4) barriers (resulting from recruitment, training, remuneration, and organization). Activities were very diverse, and a step-by-step implementation was recommended by all authors. Peer-support interventions might be a potential resource for those anxious parents and improve their NICU experiences. These challenges are described by SOS Préma in France. This article brings together recent studies on partnership in the NICU. It is an innovative topic in neonatology with vast issues to explore.

ObjectiveTo explore the impact of intensity of perinatal (‘survival-focused’) care on outcomes at 5½ years for two groups of survivors: those born at 24–26 and at 27–28 weeks of gestation.DesignProspective, population-based national cohort.SettingFrance, 2011.PatientsChildren surviving to 5½ years who were born at <29 weeks gestation.InterventionsIntensity of perinatal care, defined at the hospital level, categorised into three based on the ratio of babies of 24–25 weeks of gestation admitted into neonatal intensive care to the number of fetuses alive at maternal admission to hospital subsequently delivered at 24–25 weeks gestation.Main outcome measuresNeurodevelopmental disability (NDD—none, mild, moderate or severe) comprising cognitive, behavioural, sensory and motor abilities.ResultsAmong 3217 births, 472 children born at 24–26 weeks and 633 born at 27–28 weeks survived. At 24–26 weeks, compared with children born in low-intensity hospitals, children born in high-intensity hospitals had the lowest levels of mild (33.9%) and moderate–severe (21.9%) NDD (ORs 0.42, 0.20–0.88 and 0.47, 0.20–1.12, respectively); no difference was found between hospitals of low and medium intensity. At 27–28 weeks of gestation, no differences were seen between hospitals of any intensity level (p=0.75).ConclusionsNo evidence was found to support concerns that survival-focused perinatal care is associated with increased long-term NDDs in children born extremely preterm or at a higher gestational age.

Background: There are few data concerning the neonatal and long-term prognosis of monochorionic biamniotic twin pregnancies (MCBA) complicated by selective intrauterine growth restriction (sIUGR). The aim of the study is to assess the neurological outcomes at two years of age of these newborns and compares these outcomes to those of newborns resulting from intrauterine growth restriction (IUGR) pregnancies. Methods: The study focuses on a cross-sectional prospective cohort of patients treated between 2012 and 2019 in Marseille, France. The primary endpoint is the overall score of the Ages and Stages questionnaires (ASQ) at two years, which assesses the global neurodevelopment. The secondary endpoint is the assessment of neonatal morbi-mortality for both groups (composite endpoint). Results: In total, 251 patients were included in the analysis: 67 in the sIUGR group and 184 in the IUGR group. There was no statistically significant difference in the overall ASQ score at two years but there was the finest motor skills impairment in the IUGR group. The areas most often impaired were communication and fine motor skills. There were no significant differences between the neonatal morbi-mortality of the two groups (adjusted OR = 0.95, p = 0.9). Conclusions: Newborns from MCBA pregnancies with sIUGR appear to have similar overall neurological development to IUGR. Notably, IUGR seems to have the most moderate neurobehavioral disorder (fine motor) as a consequence of impaired antenatal brain development due to placenta insufficiency leading to chronic hypoxia.

Background Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy. Case presentation The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. To investigate this atypical hypertension, a renal Doppler ultra-sonography was performed and diffuse echo-bright arteries were detected; then a low-dose whole-body computed tomography demonstrated extensive arterial calcifications, suggesting GACI. A novel homozygous mutation c.784A > G (p.Ser262Gly) was detected in the ENPP1 gene. The infant was administered four courses of bisphosphonates: arterial calcifications were found to decrease but severe refractory hypertension was persistent . Although GACI can be a rapidly fatal illness and frequently results in death in infancy, the patient was 24 months of age at the time of writing this report. Conclusions Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. The second point is the identification of a novel mutation in the ENPP1 gene associated with a clinical presentation of GACI. The third point is the fairly favourable outcome of our patient after bisphosphonates therapy, with calcifications regression but not hypertension.

Objective: To evaluate, in very preterm infants, the hemoglobin (Hb) levels during the first 24 h and the neurodevelopment outcomes at 24 months of corrected age. Design, setting, and patients: We conducted a secondary analysis of the French national prospective and population-based cohort EPIPAGE-2. The eligible study participants were live-born singletons who were born before 32 weeks of gestational age, with early Hb levels who were admitted to the neonatal intensive care unit. Main outcome measures: The early Hb levels for an outcome survival at 24 months of corrected age without neurodevelopmental impairment were measured. The secondary outcomes were survival at discharge and without severe neonatal morbidity. Results: Of the 2158 singletons of <32 weeks with mean early Hb levels of 15.4 (±2.4) g/dL, 1490 of the infants (69%) had a follow-up at two years of age. An early Hb of 15.2 g/dL is the minimum receiving operating characteristic curve at the 24 months risk-free level, but the area under the curve at 0.54 (close to 50%) indicates that this rate was not informative. In logistic regression, no association was found between early Hb levels and outcomes at two years of age (aOR 0.966; 95% CI [0.775–1.204]; p = 0.758) but rather there was a correlation found with severe morbidity (aOR 1.322; 95% CI [1.003–1.743]; p = 0.048). A risk stratification tree showed that male newborns of >26 weeks with Hb of <15.5 g/dL (n = 703) were associated with a poor outcome at 24 months (OR 1.9; CI: [1.5–2.4] p < 0.01). Conclusions: Early low Hb levels are associated with major neonatal morbidities in VP singletons, but not with neurodevelopment outcomes at two years of age, except in male infants of >26 Weeks GA.

Sevoflurane, a volatile anesthetic, is used when extremely preterm neonates (EPT) undergo painful procedures. Currently, no existing studies analyze sevoflurane’s long-term effects during the EPT’s immediate neonatal period. Our primary objective was to compare the EPT’s neurocognitive development regardless of any sevoflurane exposure prior to 45 weeks corrected gestational age (GA). We analyzed those live discharges, less than 28 weeks GA, who were either exposed, unexposed, and/or multiply exposed to sevoflurane before 45 weeks GA. All data were obtained from a cross-sectional multicenter study (GPQoL study, NCT01675726). Children, both exposed and non-exposed to sevoflurane, were sampled using a propensity-guided approach. Neurological examinations (Touwen), cognitive and executive functions (WISC IV, NEPSY, Rey figure), and assessments when the children were between 7 and 10 years old, were correlated to their neonatal sevoflurane exposure. There were 139 children in the study. The mean gestational age was 26.2 weeks (±0.8) GA and the mean birth weight was 898 g (±173). The mean age of their evaluation was 8.47 years old (±0.70). Exposure to sevoflurane to the mean corrected age 27.10 (3.37) weeks GA had a significant correlation with cerebral palsy (adjusted odds ratio (aOR): 6.70 (CI 95%: 1.84–32.11)) and other major disorders (cerebral palsy and/or severe cognitive retardation) (aOR: 2.81 [95% CI: 1.13–7.35]). Our results demonstrate the possibility of long-term effects on EPT infants who had a sevoflurane exposure before 45 weeks corrected GA. However, these results will require further confirmation by randomized controlled trials.

Background: Oil massage versus only massage can increase preterm newborn development, especially weight gain, via a supposed percutaneous absorption of oil lipids, but data are contradictory. Aims: Investigating whether massage with a vegetable oil balanced in essential fatty acids improves neonatal weight gain, and digestive autonomy as proxy for neuro-development outcomes. Methods: A prospective monocentric randomized study was conducted in very premature newborns who received massage with oil (isio4 10 mL/kg/day, n = 18) versus with no oil (n = 18) for five consecutive days (10-min session twice daily) at a corrected gestational age of 34–35 weeks. Anthropometrics and clinical characteristics were recorded. Plasma triglyceride and total cholesterol concentrations were analyzed with an enzymatic kit. The fatty acid composition (weight%, mg/mL) of total plasma lipids and of red blood cell (RBC) membrane was analyzed by gas chromatography. Results: Weight gain velocity at the end of massage period was 12.3 ± 1.4 g/kg/day with oil vs. 9.8 ± 1.4 g/kg/day with no oil (p = 0.1). Digestive autonomy, plasma lipid parameters, polyunsaturated fatty acids in plasma total lipids or in RBC were comparable. The no oil group displayed a higher RBC level in nervonic acid at discharge (4.3 ± 0.2 vs. 3.4 ± 0.2%; p = 0.025) and in C18:1n-9 plasmalogen species at the end of the massage period and at discharge (0.73 ± 0.06 vs. 0.48 ± 0.06; 0.92 ± 0.06 vs. 0.69 ± 0.06%; p < 0.01), two molecules that are involved in neurodevelopment. Conclusions: The use of isio4 oil did not provide additional benefits for the development of very premature newborns, neither changed lipid metabolism nor polyunsaturated fatty acid biological status, which did not corroborate the existence of a percutaneous route for oil lipid absorption. The reason for different levels of nervonic acid and plasmalogen in RBC remains to be explored.