[Monitoring network for vulnerable children in the Pays de la Loire ("Grandir ensemble" - Cohort LIFT): 10 years of activity 2003-2013]. / Réseau de suivi des enfants vulnérables dans les Pays de la Loire (Grandir Ensemble - Cohorte LIFT) : dix ans d'activité de 2003 à 2013.

INTRODUCTION: Vulnerable children are at-risk newborns including premature infants and some children with pathologies presented by fear anomalies and deficiencies, most particularly neurological. Monitoring is based on the detection of these abnormalities and their early management. The organization of this monitoring system is based on a network of doctors, mostly pediatricians, trained regularly. The objective of this review was to assess the resources, means, and results of 10 years of follow-up. METHODS: The Pays de la Loire network includes 24 maternity wards and 13 neonatal departments. Annual admissions are around 5000 newborns to approximately 45,000 annual births. Upon discharge of newborns, born prematurely at 34 weeks of gestation (WG) or less, or term infants with neurological problems, parents are asked to have their child monitored by a referring doctor. During the consultation, a reference document is filled out by the doctor and sent to the project manager for data collection and specific compensation for private practitioners. Standardized questionnaires were used such as the ASQ (Ages and Stage Questionnaire) completed by parents, the developmental quotient (DQ) with the Lézine Brunet-Revised test (BLR), the intelligence quotient (IQ) with the Wechsler Preschool and Primary Scale of Intelligence (WIPPSI III) completed by psychologists employed in the network, and a questionnaire completed by the teacher at 5 years of age. RESULTS: The network started on 1st March 2003, and 28th February 2013, after 10 years of inclusion, 10,800 children had been included. This population accounts for 2.4% of all annual births: 1.1% were included for prematurity less than 33 weeks and 0.25% were term-born infants. The characteristics of children are presented with gestational age, birth weight, and obstetric and neonatal pathologies. The percentage of these children followed was 80% at 2 years and 63% at 5 years. At 2 years, the results are presented according to gestational age with approximately 60% of children without disabilities at 25-26 WG, 73% at 27-28 WG, 77% at 29-30 WG, and 86% at 31-32 WG. Absorptions are diverse and vary according to the age of the child with physical therapy, psychomotor skill work, speech therapy, hearing and vision consultations, and psychology/psychiatry. Assessment tools were refined by specific analyses: the ASQ 24 months (completed by parents) was deemed valid and predictive with respect to IQ (abandoned in 2012), and the grid completed by the teacher was found to predict abnormalities in 5 years. CONCLUSION: The Pays de la Loire monitoring network has met its initial objective, namely to detect disabilities early and provide practical help to parents in a population of vulnerable children. Benefits for professionals and other children not followed in the network were observed, with an increase in pediatricians' skills. The benefits of the evaluation results are more difficult to assess with the care than neonatal care in obstetrics. The sustainability of such a network seems assured for healthcare professionals, provided that funding is maintained by the health authorities.

[Duration of breastfeeding from 15 maternity wards of the perinatal network in the Pays de la Loire area]. / Durée d'allaitement maternel et facteurs de risques d'arrêt d'allaitement : évaluation dans 15 maternités du Réseau de santé en périnatalité des Pays de la Loire.

The "sécurité naissance - naître ensemble" network in the Pays de la Loire region of France, with 24 maternity units, conducted a survey of nursing women to determine the duration of breastfeeding and to study the factors influencing this practice. Phone calls were made to mothers at 1 month, 2 months, 3 months, and 6 months or until weaning. The statistical methods used were the Kaplan-Meier survival curve method with the calculation of the median duration of breastfeeding (exclusive or partial) in weeks, and the Cox multivariate model. The hazard ratio or relative risk (RR) was used in univariate analysis, and the adjusted odds ratio (aOR) in multivariate analysis (>1 related to short duration, and<1 related to long duration). Fifteen maternity units participated, and 239 women were followed. The median duration of breastfeeding was 15 weeks (3.5 months) with 10% discontinuing the first month and 25% continuing breastfeeding at 6 months. The final model of risk of duration contains the following variables: maternal age less than 30 years (aOR=1.54; 1.08-2.19), the time the decision was made before pregnancy (aOR=0.56; 0.38-0.83), BMI greater or equal to 30 (aOR=2.12 (1.18-3.79), and for the first month, the administration of bottle feeding or complements (aOR=2.51; 1.62-3.89), the baby's need to be stimulated to feed (aOR=5.07; 3.24-7.90), breastfeeding on demand (aOR=0.56; 0.39-0.82), and problems breastfeeding (aOR=1.45; 1.005-2.09). This survey to determine the duration of breastfeeding in western France, a region with low initiation rates, duration appears to be relatively long compared to other studies. The factors influencing breastfeeding duration were for some non-modifiable (age, time of the decision, etc.), and for others assistance by a professional (supplements, need for stimulation, difficulty sucking, breastfeeding on demand, etc.). Criteria for identifying difficulties are presented.

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

CONTEXT: Steroid 21-hydroxylase deficiency is the most common enzymatic defect causing congenital adrenal hyperplasia with good genotype/phenotype relationships for common mutations. To determine the severity of rare mutations is essential for genetic counseling and better understanding of the structure-function of the cytochrome P450c21. OBJECTIVE: The p.H62L mutation was the most frequent of 60 new mutations detected in 2900 steroid 21-hydroxylase deficiency patients, either isolated or associated on the same allele with a mild mutation (p.P453S, p.P30L, or partial promoter). Because phenotypes seemed to differ between patients with isolated or associated p.H62L, a detailed phenotype description and functional studies were performed. RESULTS: Regarding phenotype, patients with isolated p.H62L had a nonclassical form, whereas patients with the association p.H62L + mild mutation had a simple virilizing form. Functional studies showed that p.H62L reduced the conversion of the two substrates, progesterone and 17-hydroxyprogesterone, in the same way as the mild p.P453S; the association p.H62L + p.P453S decreased enzymatic activity more strongly while conserving residual activity at a level intermediate between p.P453S and p.I172N. This suggested that p.H62L was a mild mutation, whereas a synergistic effect occurred when it was associated. Analysis of p.H62L in a three-dimensional model structure of the CYP21 protein explained the observed in vitro effects, the H62 being located in a domain implied in membrane anchoring. CONCLUSION: According to phenotype and functional studies, p.H62L is a mild mutation, responsible for a more severe phenotype when associated with another mild mutation. These data are important for patient management and genetic counseling.

[Gravely ill newborns (excluding greatly premature) in 1986 and 1995 in three deparments of Pays de la Loire]. / Les nouveau-nés gravement malades (grande prématurité exclue) en 1986 et en 1995 dans trois départements des Pays de la Loire.

AIM: Evaluation of the progress in the treatment of seriously ill newborn infants under hospital care over the nine-year period from 1986 to 1995 in three departments of the Pays de la Loire region in France. POPULATION AND METHODS: The category of seriously ill newborn infants included only infants born after at least 32 weeks of gestation and having a Cullen severity score higher than 2. The two groups of seriously ill newborn infants at risk in 1986 and 1995 were first compared to a control group of healthy newborn babies delivered during the same years. The two groups were then compared with each other. RESULTS: In 1986 and 1995, the numbers of births were respectively 32,876 and 29,446, and the numbers of seriously ill newborn infants under hospital care were respectively 307 and 245. However, between 1986 and 1995 the risk factors as well as the causes of morbidity had changed. The average period of hospitalization decreased by five days. The mortality rate dropped from 0.16% to 0.09% (P < 0.05) and the number of serious complications decreased from 0.07% to 0.03% (P < 0.05). CONCLUSION: The improvement in the care of seriously ill newborn infants between the two reference periods, 1986 and 1995, may be attributed not only to technical progress but also to a better organization of the perinatal care in our region.

[Fetal and neonatal mortality from 22 weeks of amenorrhea in the Loire area]. / La mortalité foetale et néonatale à partir de 22 semaines d'aménorrhée en Pays de la Loire.

BACKGROUND: The Pays de Loire has a low perinatal mortality indicators among French regions but this could be due to under-notification. OBJECTS: To explore this hypothesis we undertook a survey in order to identify all fetal and neonatal deaths occurring at a gestionnal age of 22 weeks or more. We also tried to examine and analyze the causes of death. METHODS: All maternity (26) and neonatal wards (5) in the region took part in the survey in 1995. Clinicians were asked to fill out a questionnaire for all deaths occurring from gestational age (GA) 22 weeks and/or concerning a birthweight of a least 500 g. Only perinatal deaths related to parents living in the Pays de Loire were included in the study. RESULTS: Two hundred and sixty seven perinatal deaths were identified out of a total 29,440 births (9.1 /1000). Eighty three (2.8 /1000) were termination of pregnancy for medical reasons, of which 82% were motivated by chromosomic illness. Ninety-nine stillbirths fell (3.4 /1000) into two GA periods: 24 to 27 weeks (20%) and 38 to 41 weeks (2%). The cause of stillbirths remained unknown in 50% of cases despite a post-mortem examination rate of 87%. There were 29 deaths (1 /1000) in the immediate per and post-partum, 40% of which occurred at GA 22 to 25 weeks. Another 38% occurred at GA 36 to 40 weeks and these were related to undectected malformations or infections. Neonatal and intensive care units reported 56 neonatal deaths (1.9 /1000). GA was under 33 weeks for 44% of them. Deaths were caused by usual complications of severe prematurity, neurologic diseases and malformations. Thirty-two percent of total deaths were not notified to the French Authority: 25% of deaths for termination of pregnancy for medical reasons and 7% for stillbirths and per and post partum deaths. CONCLUSION: This survey suggests that the Pays de Loire perinatal mortality indicators remained low compared with other French regions, even after adjustment for this under notification. This casts doubts on the validity of perinatal mortality monitoring based on official notifications. The cause may lie in the inadequacy of legislation of the particular circumstances of perinatal deaths.

[Evaluation of perinatal policy. Result of a survey about birth in Pays de Loire]. / Evaluation d'une politique périnatale. Résultat d'une enquête sur la naissance en Pays de Loire.

A survey was undertaken in 3 French departments of the Pays de Loire from January 1, 1986 to December 31, 1986. Among the 32,876 neonate (NN) population, the authors studied the 2,753 NN who were hospitalized and a control group of 1,458 NN representative of the population of 30,123 NN who were not hospitalized. Socioeconomic patterns of mothers, of their pregnancies and deliveries were studied in both groups. The control group was compared with the data obtained in 1981 at the national level and in 1982 at the local level. This group was used as a reference for the study of hospitalized NN. Intrauterine growth retardation rate was 2.4%, prematurity rate 4.6% of live births, very premature rate (as defined by a gestational age less than 32 weeks) was 0.45% of births. Among the group of hospitalized NN, which represent 8.5% of the general population, the NN were regrouped according to Cullen's classification and their care load estimated according to the Omega score. Thus 2 subgroups were defined: the 2,298 ordinarily hospitalized (Cullen's classes I and II) and the 455 severely sick NN (classes III and IV) i.e. 1.3% of births. One third of the severely ill NN were very prematures. The 2 other thirds presented with respiratory (24%), infectious (24%), malformative (19%) or neurological (13%) diseases. Lengths of stay and Omega scores varied according to the causes for hospitalizations and were inversely correlated with gestational ages (p less than 0.001). Neonatal mortality was 3.3 p. 1,000 births and rate of stillbirths 6.5 p. 1,000.