RESUMO
OBJECTIVES: To investigate the relation between neonatal intensive care unit (NICU) volume and survival, and neuromotor and sensory disabilities at 2 years in very preterm infants. STUDY DESIGN: The EPIPAGE-2 (Etude Epidémiologique sur les Petits Âges Gestationnels-2) national prospective population-based cohort study was used to include 2447 babies born alive in 66 level III hospitals between 24 and 30 completed weeks of gestation in 2011. The outcome was survival without disabilities (levels 2-5 of the Gross Motor Function Classification System for cerebral palsy with or without unilateral or bilateral blindness or deafness). Units were grouped in quartiles according to volume, defined as the annual admissions of very preterm babies. Multivariate logistic regression analyses with population average models were used. RESULTS: Survival at discharge was lower in hospitals with lower volumes of neonatal activity (aOR 0.55, 95% CI 0.33-0.91). Survival without neuromotor and sensory disabilities at 2 years increased with hospital volume, from 75% to 80.7% in the highest volume units. After adjustment for gestational age, small for gestational age, sex, maternal age, infertility treatment, multiple pregnancy, principal cause of prematurity, parental socioeconomic status, and mother's country of birth, survival without neuromotor or sensory disabilities was significantly lower in hospitals with a lower volume of neonatal activity (aOR 0.60, 95% CI 0.38-0.95) than in the highest quartile hospitals. CONCLUSIONS: These results suggest that lower neonatal intensive care unit volume is associated with lower survival without an increase in disabilities at 2 years. These results could be useful to generate improvements of perinatal regionalization.
Assuntos
Doenças do Prematuro/mortalidade , Doenças do Prematuro/terapia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Estudos de Coortes , Utilização de Instalações e Serviços , Feminino , França , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Taxa de SobrevidaAssuntos
Diabetes Gestacional , Adolescente , Animais , Traumatismos do Nascimento/etiologia , Plexo Braquial/lesões , Pré-Escolar , Anormalidades Congênitas/etiologia , Dislipidemias/etiologia , Distocia/etiologia , Feminino , Morte Fetal , Macrossomia Fetal/etiologia , Humanos , Hipertensão/etiologia , Hipoglicemia/congênito , Recém-Nascido , Síndrome Metabólica/etiologia , Obesidade/complicações , Obesidade/etiologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologiaRESUMO
OBJECTIVE: To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). STUDY DESIGN: Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations. RESULTS: Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation-negative group (P = .015). No correlation was found between the presence or absence of renal or urinary tract malformations and the location or type of MLL2 mutation. Renal function was normal except for 1 patient with a MLL2 mutation diagnosed in the first days of life and severe renal disease due to unilateral renal agenesia and controlateral severe hypoplasia that progressed to the terminal stage at age 2 years. CONCLUSION: Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.
Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças Hematológicas/diagnóstico , Rim/anormalidades , Doenças Vestibulares/diagnóstico , Anormalidades Múltiplas/sangue , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Biomarcadores/sangue , Criança , Pré-Escolar , Estudos de Coortes , Creatinina/sangue , Proteínas de Ligação a DNA/genética , Face/anormalidades , Face/fisiopatologia , Feminino , França , Estudos de Associação Genética , Marcadores Genéticos , Técnicas de Genotipagem , Taxa de Filtração Glomerular , Doenças Hematológicas/sangue , Doenças Hematológicas/genética , Doenças Hematológicas/fisiopatologia , Histona Desmetilases/genética , Humanos , Lactente , Rim/diagnóstico por imagem , Rim/metabolismo , Rim/fisiopatologia , Masculino , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Estudos Retrospectivos , Ultrassonografia , Doenças Vestibulares/sangue , Doenças Vestibulares/genética , Doenças Vestibulares/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: To compare 3 methods of identifying small-for-gestational-age (SGA) status in very preterm children as related to cognitive function and academic outcome. STUDY DESIGN: There were 1038 singletons in the Epipage Study, born before 33 weeks in 1997 without severe neurosensory impairment, who were classified as SGA when birth weight was below the 10th percentile according to: (1) birth weight (bw) reference: SGA(bw)/appropriate for gestational age (AGA)(bw); (2) intrauterine (intraut) reference: SGA(intraut)/AGA(intraut); and (3) intrauterine reference customized (cust) according to individual characteristics: SGA(cust)/AGA(cust). Cognitive function was assessed by the mental processing composite (MPC) score of the Kaufman Assessment Battery for Children at age 5 and academic achievement by a parental questionnaire at age 8. RESULTS: Of the children, 15% were SGA(bw), 38% were SGA(intraut), and 39% were SGA(cust). All children SGA(bw) were also SGA(intraut) and SGA(cust). MPC was <85 in 32% of children and 27% had low academic achievement. AGA(bw)/SGA(intraut) children had a significantly increased risk of MPC <85 (adjusted OR 1.74, 95% CI 1.22-2.28) or low academic achievement (adjusted OR 1.64, 95% CI 1.05-2.55) compared with AGA(bw)/AGA(intraut) children. The SGA(cust) group was only slightly different from the SGA(intraut) group. CONCLUSIONS: An intrauterine reference identified very preterm infants at risk of poor cognitive or academic outcomes better than a birth weight reference. Customization resulted in only slight modifications of the SGA group.
Assuntos
Logro , Cognição , Gráficos de Crescimento , Recém-Nascido Prematuro/psicologia , Recém-Nascido Pequeno para a Idade Gestacional/psicologia , Peso ao Nascer , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Testes Psicológicos , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To evaluate the prevalence of cranial ultrasound abnormalities in very preterm infants as a function of gestational age, plurality, intrauterine growth restriction, and death before discharge. STUDY DESIGN: A prospective, population-based cohort of 2667 infants born between 22 and 32 weeks of gestation in 1997 in nine regions of France, transferred to a neonatal intensive care unit, for whom at least one cranial ultrasound scan was available. RESULTS: The frequencies of white matter damage (WMD), major WMD, cystic periventricular leukomalacia (PVL), periventricular parenchymal hemorrhagic involvement, and intraventricular hemorrhage with ventricular dilatation were 21%, 8%, 5%, 3%, and 3%, respectively. The risk of WMD increased with decreasing gestational age. Mean age at diagnosis of cystic PVL was older for the most premature infants. Intraventricular hemorrhage with ventricular dilatation was associated with a higher risk of cystic PVL. Intrauterine growth restriction was not associated with a lower prevalence of cystic PVL. CONCLUSION: The frequency of WMD is high in very preterm babies and is strongly related to gestational age. The incidence of cystic PVL did not differ between babies with intrauterine growth restriction and babies who were appropriate for gestational age.