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ABSTRACT: Objective: We aimed to investigate the predictive value for severe adverse outcome of plasma protein measurements on day one of life in very preterm infants and to compare total plasma protein levels with the validated illness severity scores CRIB, CRIB-II, SNAP-II and SNAPPE-II, regarding their predictive ability for severe adverse outcome. Methods: We analyzed a cohort of infants born at 24–31 weeks gestation, admitted to the tertiary intensive care unit of a university hospital over 10.5 years. The outcome measure was ''severe adverse outcome'' defined as death before discharge or severe neurological injury on cranial ultrasound. The adjusted odd ratio (aOR) and 95% confidence interval (95% CI) of severe adverse outcome for hypoproteinemia (total plasma protein level ,40 g/L) was calculated by univariate and multivariate analyses. Calibration (Hosmer-Lemeshow goodness-of-fit) was performed and the predictive ability for severe adverse outcome was assessed for total plasma protein and compared with CRIB, CRIB-II, SNAP-II and SNAPPE-II, by calculating receiver operating characteristic (ROC) curves and their associated area under the curve (AUC). Results: 761 infants were studied: 14.4% died and 4.1% survived with severe cerebral ultrasound findings. The aOR of severe adverse outcome for hypoproteinemia was 6.1 (95% CI 3.8–9.9). The rank order for variables, as assessed by AUCs and 95% CIs, in predicting outcome was: total plasma protein [0.849 (0.821–0.873)], SNAPPE-II [0.822 (0.792–0.848)], CRIB [0.821 (0.792–0.848)], SNAP-II [0.810 (0.780–0.837)] and CRIB-II [0.803 (0.772–0.830)]. Total plasma protein predicted severe adverse outcome significantly better than CRIB-II and SNAP-II (both p,0.05). Calibration for total plasma protein was very good. Conclusions: Early hypoproteinemia has prognostic value for severe adverse outcome in very preterm, sick infants. Total plasma protein has a predictive performance comparable with CRIB and SNAPPE-II and greater than other validated severity scores.
PLoS ONE 04/2013; · 4.09 Impact Factor
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ABSTRACT: BACKGROUND: We observed two preterm infants who developed severe hypokalaemia following doxapram. We therefore wished to review the possible association between doxapram and severe hypokalaemia. STUDY DESIGN: A retrospective study of preterm infants born before 32 weeks of gestation and hospitalised in our intensive care unit in 2004. For each infant, treatment with doxapram or with any drug known to interfere with potassium metabolism, potassium intakes and episodes of hypokalaemia have been recorded. RESULTS: Out of 105 infants, 54 received doxapram. Doxapram-treated infants were significantly younger and had a lower birth weight. Doxapram treated infants were more likely to receive caffeine, furosemide, insulin and mechanical ventilation. There was no difference between the two groups for the other parameters. Hypokalaemia was frequently encountered in our population since it occurred in 76% of enrolled patients and severe hypokalaemia (potassium plasma level below 3 mmol/l) was found in 41%. Bivariate analysis underlined several risk factors for severe hypokalaemia: use of doxapram, gestational age below 28 weeks, use of mechanical ventilation, furosemide, ibuprofen, insulin and postnatal corticosteroids.Cox model's multivariate analysis showed that administration of furosemide and doxapram significantly increased the occurrence of severe hypokalaemia with relative risks of 4.9 (95% CI 1.9 to 12.5) and 8.2 (95% CI 3.1 to 21.7), respectively. CONCLUSIONS: This retrospective study underlines the high incidence of severe hypokalaemia in very preterm infants and an increased risk of severe hypokalaemia during doxapram treatment. We recommend potassium monitoring during any use of doxapram.
Archives of Disease in Childhood - Fetal and Neonatal Edition 02/2013; · 3.05 Impact Factor
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ABSTRACT: Abstract Objective: To assess the impact of household smoking and palivizumab prophylaxis on the risk of respiratory syncytial virus (RSV) hospitalisation in late-preterm (32-35 weeks' gestational age) infants. Methods: Familial smoking and other RSV risk factor data from the FLIP, FLIP-2 and IMpact studies and datasets from France, Germany and Italy, together with palivizumab prophylaxis data from the FLIP-2 and IMpact studies, were analysed using cross-correlation and Bayesian meta-analytical modelling employing Markov Chain Monte Carlo (MCMC) sampling. Results: There were 2.35 times (95% CI 1.37 to 4.02) as many hospitalisations amongst infants from smoking compared with those from non-smoking families. Among non-prophylaxed infants, there were 2.53 times (95% CI 1.27 to 4.94) as many RSV hospitalisations from smoking than from non-smoking families and that excess hospitalisation was reduced to 1.03 times (95% CI 0.38 to 2.99) amongst prophylaxed infants. Familial smoking correlates significantly (p<0.01) with other RSV risk factors: positive correlation with number of school-age siblings, history of family atopy, family wheeze, and gestational age; negative correlation with birth weight and breast feeding. Conclusions: Late-preterm infants from smoking families appear to be at heightened risk for severe RSV infection requiring hospitalisation of which the risk may be reduced with RSV prophylaxis.
The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 02/2013; · 1.36 Impact Factor
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ABSTRACT: Objectives: To describe the maternal and neonatal outcomes of a large cohort of adolescent pregnancies in a tertiary care hospital at Reunion Island. Methods: Retrospective study of all primiparous singleton pregnancies over 10.5 years. Adolescent (<18 years) were compared to 18-29 years pregnancies. The maternal outcomes were obstetric illness, labor complications, and way of delivery. Neonatal outcomes were preterm birth, low birth weight (LBW), small for gestational age, birth asphyxia, need for mechanical ventilation, and mortality. Results: We analyzed 1839 adolescent pregnancies and 11,445 controls. Adolescents had worse prenatal care than older mothers, (4.4 vs. 1.4%; p < 0.0001), higher rates of smoking and alcohol assumption (13 vs. 11% and 0.7 vs. 0.4%, both p < 0.05). They showed less pregnancy-related illness and labor complications and higher rates of normal vaginal delivery (80 vs. 69%; p < 0.0001), without increased risk of episiotomy or postpartum hemorrhage. Offspring mortality, preterm birth, and LBW were higher in adolescent pregnancies (3.3 vs. 2.2%; p = 0.001, 14 vs. 12%; p = 0.0008; 17 vs. 14%; p = 0.002). Conclusions: In this population, adolescents had an obstetrical outcome better than controls, but their offspring short-term outcomes were unfavorable. Furthers studies are needed to better elucidate the link between adolescent pregnancy and impaired neonatal outcome.
The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 08/2012; · 1.36 Impact Factor
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ABSTRACT: Objective Evidence supports the efficacy of probiotics in reducing necrotizing enterocolitis (NEC) in very low-birth-weight infants, although concerns remain with regard to their routine use. Since 2008 in our neonatal intensive care unit, a low dose of probiotics (unique strain) is administered as standard of care in all preterm babies born at 24 to 31 weeks' gestation. This study reports outcomes in infants receiving probiotic cohort (PC) compared with the historical cohort.Design Treatment with Lactobacillus rhamnosus Lcr35 (Lcr Restituo) (2 × 108 colony-forming units/12 h) was started early after birth and intention to treat was up to 36 weeks' gestation. The main outcome was definite NEC. Secondary outcomes were mortality, late-onset sepsis (LOS), cholestasis, isolated rectal bleeding (IRB), and time to reach full enteral feeding (FEF).Results A total of 1130 patients were included. No adverse effects were observed. Infants in PC presented a reduced rate of NEC (odds ratio [OR] 0.20; 95% confidence interval [CI] 0.07 to 0.58), mortality (OR 0.46; 95% CI 0.21 to 1.00), and LOS (OR 0.60; 95% CI 0.40 to 0.89) and achieved FEF significantly earlier. IRB was significantly reduced among infants receiving the complete scheduled treatment.Conclusion Administration of Lcr Restituo was well tolerated and associated with lower mortality and morbidities in this cohort. Our results provide evidence in support of the hypothesis that this probiotic may reduce IRB.
American Journal of Perinatology 07/2012; · 1.32 Impact Factor
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ABSTRACT: Perinatal arterial ischemic stroke (PAIS) is a common cause of hemiplegic cerebral palsy in children. The diagnosis of PAIS is based on cerebral imaging. The objective of our study was to determine prenatal risk factors associated with PAIS.
A retrospective case-control study was nested in the whole population of Burgundy, France, from January 2000 to December 2007. Case patients were confirmed by review of brain imaging and medical records. Three control subjects per case were randomly selected from the study population by sex, term, place, and year of birth.
PAIS was confirmed in 32 patients and its incidence was one per 4400 live births. In comparison to control subjects, clinical conditions significantly associated to cases were gestational diabetes (16.1% versus 4.2%; P=0.04), fetal heart rate abnormalities (35.5% versus 10.9%; P=0.001), and meconium-stained liquor (40% versus 12%; P<0.001). At the limit of statistical significance were found maternal smoking before (39.3% versus 22.9%; P=0.08) and during pregnancy (32.1% versus 16.7%; P=0.07), cord abnormalities (29% versus 14.1%; P=0.06), and cesarean delivery (28.1% versus 14.6%; P=0.08). In the multivariate analysis, maternal smoking during pregnancy (OR, 3.1; 95% CI, 1.1-8.8; P=0.04) was the only risk factor significantly associated with PAIS.
This study is the first to identify maternal smoking during pregnancy as an independent prenatal risk factor of PAIS. Additional prospective studies are needed to confirm this result and to investigate the role of maternal smoking in fetal and neonatal thrombogenesis.
Stroke 06/2012; 43(9):2307-12. · 5.73 Impact Factor
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ABSTRACT: Objective. To describe the chloride balance in infants born 25-32-week gestation, analyze the association of chloride changes with hydroelectrolytic status and their relationship with perinatal conditions, morbidities, and neurological outcome. Methods. For 7 days after birth, sodium and chloride balance, plasma potassium, phosphate, and total carbon dioxide (tCO(2)) were prospectively determined and strong ion difference (SID) calculated. Three multivariate regression analyses were performed to identify factors associated with high plasma chloride concentration, low SID, and low tCO(2). Results. 107 infants were studied. Plasma chloride concentration was significantly positively associated with plasma sodium concentration. Higher plasma chloride and lower SID were significantly associated with lower plasma tCO(2). Chloride intake was the main independent factor associated with high plasma chloride, low SID, and low plasma tCO(2), with lesser contribution of sodium intake and low gestational age (GA). Also, patent ductus arteriosus and birth weight loss were independent factors affecting plasma chloride and SID. Neither high chloride levels nor low SID were associated to impaired neurological outcome. Conclusions. In preterm infants, chloride balance is influenced by GA and by interrelationship between sodium and chloride intake. High chloride levels are associated with metabolic acidosis but not related to increased risk of impaired neurological outcome.
International Journal of Pediatrics 01/2012; 2012:931597.
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ABSTRACT: Accurate data on the optimal chloride (Cl) intake in premature infants are scarce. The aim of the present study was to describe Cl intakes in the first 10 days of life and to assess the relations between high Cl intakes and corrected serum Cl level or markers of severe acidosis in infants <28 weeks' gestation.
Retrospective cohort study including all of the infants <28 weeks admitted to the neonatal intensive care unit during a 3-year period and cared for from birth until day 10 or more.
Fifty-six infants were included. Cumulative total Cl intakes reached 9.6 ± 3.7 mmol/kg at day 3 and 49.2 ± 13.5 mmol/kg at day 10. Inadvertent intakes (from intravenous fluids other than parenteral nutrition) represented on average 70% of total Cl intakes in the first 3 days. Difference between Cl and sodium intakes reached 7.8 ± 4.8 mmol/kg at day 10 and mainly originated from parenteral nutrition. By multivariate analysis, cumulative Cl intake >10 mmol/kg during the first 3 days was an independent risk factor of base excess <-10 mmol/L. Cumulative Cl intake >45 mmol/kg during the first 10 days was an independent risk factor of corrected chloremia >115 mmol/L and of base excess <-10 mmol/L.
Cumulative Cl intake >10 mmol/kg during the first 3 days (ie, 3.3 mmol · kg (-1) · day(-1) on average) and >45 mmol/kg during the first 10 days (ie, 4.5 mmol · kg (-1) · day(-1) on average) may have unwanted metabolic consequences and should be avoided. Imbalance between electrolytes provided by the parenteral nutrition solution need to be detected and corrected.
Journal of pediatric gastroenterology and nutrition 12/2011; 54(5):613-9. · 2.18 Impact Factor
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ABSTRACT: In severe perinatal asphyxia, the prognostic value of apparent diffusion coefficient (ADC) measurements is still open to question. We hypothesized that temporal and anatomical changes of brain ADC values occurring early after the hypoxic-ischemic insult could predict the outcome at 36 months. To demonstrate this, mean ADC values were calculated for 16 brain structures in 59 term neonates who underwent an MR examination during the first month of life. Neonates were divided into two groups according to their 36-month outcome: unfavorable (death/severe disability) or favorable outcome. ADC values were plotted against age at scan. In neonates with favorable outcomes (n=32), ADC values were constant over the study period. In babies with unfavorable outcomes (n=27), ADCs exhibited two different patterns. In infratentorial structures, ADCs were constant and normal. In supratentorial areas, ADCs followed a biphasic temporal evolution: ADC values were at their lowest at day 2, showed a rapid increase until Days 5-7, and were thereafter similar to those of neonates with favorable outcomes. Using receiver operating characteristic analysis, during the first 3-5 days of life, all neonates with decreased ADC had an unfavorable outcome. These temporal and anatomical changes of ADC values imply that individual prognosis of asphyxiated neonates can only be predicted by measurement of ADC in supratentorial areas within the first 3-5 days of life.
Magnetic Resonance Imaging 02/2011; 29(2):194-201. · 1.99 Impact Factor
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ABSTRACT: Parenteral nutrition is commonly given to premature infants. It has previously been suggested that standardized parenteral nutrition (SPN) may offer nutritional advantages compared to individualized parenteral nutrition (IPN). However, whether the same level of biochemical control is assured with SPN and with IPN remains uncertain.
To compare fluid and electrolyte balance in preterm infants receiving IPN versus SPN in the first week of life.
107 infants born at <33 weeks gestation were prospectively evaluated. Serum and urinary creatinine and electrolyte concentration, urine volume, body weight, fluid, electrolyte and energy intakes were recorded daily.
40 infants received IPN and 67 SPN. Infants in IPN had significantly more water and less sodium intake than those receiving SPN. Energy and amino acid intakes were significantly lower in IPN than in SPN groups. Incidence of hypernatremia and hyponatremia was similar in both groups. Nonoliguric hyperkalemia (NOHK) was significantly more frequent in IPN than in SPN (20.0 vs. 2.9%) and mean serum K(+) peak over the first 3 days was higher in IPN than in SPN (5.63 +/- 1.05 vs. 4.91 +/- 0.78 mmol/l). Weight loss (% of birth weight) at day 7 was significantly higher in IPN than in SPN (7.7 +/- 5.8 vs. 4.2 +/- 6.5) without differences in urine output/input fluid intake ratio and glomerular renal function between the two groups.
There were no significant differences in water and sodium balance in preterm infants who received IPN versus SPN. The risk of NOHK was higher in IPN. Also, SPN significantly increased amino acid and caloric intakes, and it reduced early weight loss.
Neonatology 06/2010; 98(1):84-90. · 2.66 Impact Factor
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Archives of dermatology 05/2010; 146(5):565-7. · 4.76 Impact Factor
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ABSTRACT: To identify the best combination of serum cytokines and clinical parameters to diagnose rapidly early-onset neonatal infection (EONI) in critically ill preterm infants. At birth, most critically ill neonates are receiving broad-spectrum antibiotics pending bacterial culture results, because distinguishing infected from noninfected infants at birth is difficult.
Prospective study.
Neonatal intensive care unit in a tertiary care hospital.
Two hundred thirteen infants, born before 33 wks' gestation, admitted to the neonatal intensive care unit within 6 hrs of life with a presumptive diagnosis of EONI.
A presumptive diagnosis of EONI was associated with a 300-μL blood sample to measure six cytokine (interleukin [IL]-1β, IL-6, IL-8, IL-10, IL-12, tumor necrosis factor-α) concentrations, using the cytometric bead array technique.
Of the 213 infants included, 31 had a definite or possible EONI and 182 were not infected. Concentrations of IL-6, IL-8, and IL-10 were significantly increased in infected neonates, in comparison with infants without EONI. In contrast, IL-1β, IL-12, and tumor necrosis factor-α concentrations were not. Logistic regression analyses were performed to construct multivariate predictive models that could distinguish infected from noninfected infants at birth. A clinical score was based on three parameters independently associated with EONI (i.e., interval of >12 hrs between the membranes rupture and delivery, prenatal maternal colonization and mechanical ventilation at birth). This score was compared with scores including clinical parameters and serum cytokines, alone or in combination. The best predictive model combined the three clinical parameters, IL-6 (positive threshold, 300 pg/mL) and IL-8 (positive threshold, 300 pg/mL) concentrations.
A predictive model combining serum IL-6 and IL-8 measurements and selected clinical variables could distinguish infected from noninfected preterm infants at birth and should help the clinician in reducing or shortening the unnecessary use of antibiotics.
Pediatric Critical Care Medicine 05/2010; 12(2):203-9. · 3.13 Impact Factor
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ABSTRACT: Approximately 75% of preterm births are late-preterm (34(0/7) to 36(6/7) weeks gestation). This group has usually been considered as a whole in studies assessing the outcome of these preterm infants by comparison with term infants. However, the respective contribution to prognosis of each week of gestation has not been fully clarified.
A population-based study of 150 426 live-born singleton neonates with gestational ages ranging from 34 to 41 weeks of gestation.
The rate of severe respiratory disorders (treated by mechanical ventilation and/or nasal continuous positive airway pressure) markedly declined with gestational age from 19.8% at 34 weeks to 0.28% at 39-41 weeks. Between 34 and 38 weeks, each additional week diminished the relative risk (crude or adjusted) of severe respiratory disorders by a factor varying from 2 to 3. The rate of poor prognosis (death and/or severe neurological condition) significantly declined between 34 and 38 weeks and remained stable thereafter. A multivariate analysis showed that antepartum haemorrhage and hypertensive disorders during pregnancy were significantly associated with severe respiratory disorders and poor outcome. Diabetes was an additional factor associated with severe respiratory disorders.
Future studies should delineate more precisely the respective contribution of gestational age, maternal complication and induced delivery in the prognosis of infants born between 33 and 39 weeks gestation.
International Journal of Epidemiology 03/2010; 39(3):769-76. · 6.41 Impact Factor
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ABSTRACT: A model to predict hospitalization due to respiratory syncytial virus (RSV) of infants born at 33- 35 weeks' gestation was developed using seven risk factors from the Spanish FLIP study "birth +/-10 weeks from the beginning of the RSV season", "birth weight", "breast fed <or=2 months", "number of siblings >or=2 years", "number of family members with atopy", "number of family members with wheezing", and "gender". The aim of this study was to validate the model using French data.
The FLIP model [predictive accuracy 71%, receiver operating characteristic (ROC) 0.791] was tested against the French data (77 hospitalized infants with RSV born at 33-35 weeks and 154 age-matched controls) using discriminatory function analysis by applying the FLIP coefficients to the French data and by generating the seven variable model from the French data.
Applying the FLIP coefficients to the French dataset, the model correctly classified 69% of cases (ROC 0.627). The predictive power increased to 73% (ROC 0.654) when "number of siblings >or=2 years" was substituted for "number of children at school". The number needed to treat (NNT) in order to prevent 70% of hospitalizations was 18. The model derived using French data could correctly classify 62% of cases in the French data (ROC 0.658).
The model was successfully validated and may potentially optimize immunoprophylaxis in French infants born at 33-35 week's gestation.
Journal of Perinatal Medicine 03/2010; 38(4):411-7. · 1.70 Impact Factor
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Antoine Burguet,
Cyril Ferdynus,
Gérard Thiriez,
Marie-France Bouthet,
Simon Kayemba-Kays,
Paul Sanyas,
Alain Menget,
Blandine Mulin,
Didier Riethmuller,
Robert Maillet,
Claire Brousse,
Guillaume Magnin,
Philippe Boisselier,
Paul Sagot,
Fabrice Pierre,
Béatrice Gouyon, Jean-Bernard Gouyon
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ABSTRACT: We describe the administration of antenatal corticosteroid therapy (ACT) for liveborn very preterm neonates in a population-based study. A total of 790 very preterm neonates (between 24 and 31 full weeks of gestation) were included in this regionally defined population of very preterm neonates in France. The main outcome measure was non-access to ACT. Data were analysed using logistic and polytomous models to control for neonatal and sociodemographic characteristics, mechanisms of very preterm birth and neonatal network organisation. As compared with level III, births in levels I-II maternity units were closely related to non-access to ACT (60.1% vs. 8.8%), but not to pregnancy follow-up (19.7% vs. 17.8%). Only 6.3% of very preterm neonates that benefited from antepartum referral did nor receive ACT. Births associated with rupture of membranes and gestational hypertension were significantly more often transferred to level-III units (73.8% and 68.3% respectively) than those due to maternal bleeding and spontaneous labour (57.0% and 50.7% respectively), and the neonates had a lower probability of not receiving ACT (8.5%, 11.5%, 23.0%, 31.2% respectively). Very preterm neonates referred in utero to a level-III unit came from a more favourable socio-economic environment. Non-access to ACT was more often observed in neonates born to 14- to 24-year-old mothers, smokers, of low socio-economic status, and preterm birth resulting from maternal bleeding or spontaneous labour. These data from a French regional study show that access to ACT is not only explained by practitioners' support of recommendations. In our population-based study, ACT access was related to socio-economic factors and to the mechanisms of very preterm birth. Improving the rate of access to ACT should take these organisational, medical and socio-economic dimensions into account.
Paediatric and Perinatal Epidemiology 01/2010; 24(1):63-74. · 2.31 Impact Factor
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ABSTRACT: To develop neonatal growth standards based on (1) the entire population of live births and (2) a healthy subpopulation and compare them in identifying infants as small for gestational age and at risk of adverse neonatal outcomes.
We included all births, between 28 and 41 weeks of gestation, reported in Burgundy (France) from 2000 to 2006. Fetal deaths, multiple births, and chromosomal aberrations were excluded. We first estimated separate birth weight distributions at each week of gestation for (1) all neonates and (2) only infants born from women without maternal diseases. Small for gestational age was defined as a birth weight below the 10th percentile of the corresponding standard. We assessed the associations of small for gestational age on the basis of the alternative definitions, with mortality and major neonatal outcomes.
We included 127 584 live births. For term newborns, small for gestational age was significantly associated with an increased risk of death with both standards. In contrast, for preterm newborns (32-36 weeks), small for gestational age was not significantly associated with mortality and morbidity. Very preterm infants (28-31 weeks) identified as small for gestational age according to the healthy-population standard were at higher risk of chronic lung disease and intraventricular hemorrhage. When using the entire-population standard, small for gestational age was associated with chronic lung disease but not intraventricular hemorrhage. The area under the receiver operating characteristic for predicting an intraventricular hemorrhage was significantly greater for small for gestational age defined with the healthy-population standard compared with small for gestational age classified with the entire-population standard.
Neonatal growth standards based on healthy populations could improve the identification of very preterm neonates as small for gestational age and at risk of intraventricular hemorrhage.
PEDIATRICS 03/2009; 123(2):723-30. · 4.47 Impact Factor
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ABSTRACT: To assess the Burgundy perinatal network (18 obstetrical units; 18 500 births per year), discharge abstracts and additional data were collected for all mothers and newborns. In accordance with French law, data were rendered anonymous before statistical analysis, and were linked to patients using a specific procedure. This procedure allowed data concerning each mother to be linked to those for her newborn(s). This study showed that all mothers and newborns were included in the regional database; the data for all mothers were linked to those for their infant(s) in all cases. Additional data (gestational age) were obtained for 99.9% of newborns.
International Journal of Telemedicine and Applications 02/2009; 2009:181842.
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Sébastien Gay,
Delphine Dupuis,
Laurence Faivre,
Alice Masurel-Paulet,
Marc Labenne,
Marina Colombani,
Pierre Soichot,
Frédéric Huet,
Bernard Hainque,
Damien Sternberg,
Bertrand Fontaine, Jean-Bernard Gouyon,
Christel Thauvin-Robinet
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ABSTRACT: We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non-specific and electromyography revealed intense generalized myotonia. The myotonic episodes improved after introducing oral mexiletine and maintaining room temperature at 28 degrees C. The patient died at 20 months of age following a bronchopulmonary infection. A previously undescribed de novo heterozygous c.3891C > A change, which predicts p.N1297K in the SCN4A gene. Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. The cold-sensitive episodes of stiffness followed by weakness suggested the diagnosis of channelopathy in our patient. However, her neonatal onset, the triggering of severe episodes by exposure to modest decreases in temperature, involvement of respiratory muscles with prolonged apnea, early-onset muscle hypertrophy, psychomotor retardation, and fatal outcome are evocative of a distinct clinical subtype. Our observation expands the phenotypic spectrum of sodium channelopathies.
American Journal of Medical Genetics Part A 02/2008; 146(3):380-3. · 2.39 Impact Factor
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Acta Paediatrica 01/2008; 75(2):324 - 325. · 2.07 Impact Factor
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ABSTRACT: Few prospective population-based studies of respiratory diseases have been conducted in term neonates. We aimed to describe mechanically ventilated respiratory disorders in term neonates and associated risk factors in a regional-based study of livebirths between 37 and 41 weeks. The study was prospective for epidemiological data recording, and retrospective for collecting additional data from charts of neonates with severe (mechanically ventilated) respiratory disorders. A total of 14,813 neonates with gestational age (GA) 37-38 weeks and 50,187 neonates with GA 39-41 weeks were included. The overall incidences (per thousand livebirths) of mechanically ventilated transient tachypnoea of the newborn (TTN) respiratory distress syndrome (RDS) and meconium aspiration syndrome (MAS) were 0.72 per thousand[95% CI 0.53 per thousand, 0.96 per thousand], 0.38 per thousand[95% CI 0.25 per thousand, 0.57 per thousand] and 0.61 per thousand[95% CI 0.44 per thousand, 0.84 per thousand], respectively. Increasing GA from 37 to 41 weeks was associated with a significant decrease in incidence of RDS and TTN without any significant change for MAS. Multivariable analysis was used to identify independent factors associated with severe respiratory disorders: in the 37-38 weeks group - Apgar score < or =3 at 1 min, elective caesarean section (CS), emergency CS and placental abruption; in the 39-41 weeks group - Apgar score < or =3 at 1 min, elective CS, emergency CS, meconium-stained amniotic fluid and abnormal cardiotocography. Comparing the population attributable risks, the main risk factor of severe respiratory disorders was elective CS in the 37-38 weeks group and meconium-stained amniotic fluid in the 39-41 weeks group.
Paediatric and Perinatal Epidemiology 01/2008; 22(1):22-30. · 2.31 Impact Factor
