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  • 1
    Language: English
    In: The Lancet (British edition), 2008, Vol.371 (9615), p.813-820
    Description: Summary Background The increasing survival rates of children who are born very preterm raise issues about the risks of neurological disabilities and cognitive dysfunction. We aimed to investigate neurodevelopmental outcome and use of special health care at 5 years of age in a population-based cohort of very preterm children. Methods We included all 2901 livebirths between 22 and 32 completed weeks of gestation from nine regions in France in Jan 1–Dec 31, 1997, and a reference group of 667 children from the same regions born at 39–40 weeks of gestation. At 5 years of age, children had a medical examination and a cognitive assessment with the Kaufman assessment battery for children (K-ABC), with scores on the mental processing composite (MPC) scale recorded. Data for health-care use were collected from parents. Severe disability was defined as non-ambulatory cerebral palsy, MPC score less than 55, or severe visual or hearing deficiency; moderate deficiency as cerebral palsy walking with aid or MPC score of 55–69; and minor disability as cerebral palsy walking without aid, MPC score of 70–84, or visual deficit (〈3/10 for one eye). Findings In total, 1817 (77%) of the 2357 surviving children born very preterm had a medical assessment at 5 years and 396 (60%) of 664 in the reference group. Cerebral palsy was diagnosed in 159 (9%) of children born very preterm. Scores for MPC were available for 1534 children born very preterm: 503 (32%) had an MPC score less than 85 and 182 (12%) had an MPC score less than 70. Of the 320 children in the reference group, the corresponding values were 37 (12%) and 11 (3%), respectively. In the very preterm group, 83 (5%) had severe disability, 155 (9%) moderate disability, and 398 (25%) minor disability. Disability was highest in children born at 24–28 completed weeks of gestation (195 children [49%]), but the absolute number of children with disabilities was higher for children born at 29–32 weeks (441 children [36%]). Special health-care resources were used by 188 (42%) of children born at 24–28 weeks and 424 (31%) born at 29–32 weeks, compared with only 63 (16%) of those born at 39–40 weeks. Interpretation In children who are born very preterm, cognitive and neuromotor impairments at 5 years of age increase with decreasing gestational age. Many of these children need a high level of specialised care. Prevention of the learning disabilities associated with cognitive deficiencies in this group is an important goal for modern perinatal care for children who are born very preterm and for their families.
    Subject(s): Internal Medicine ; Severity of Illness Index ; Developmental Disabilities - etiology ; Humans ; Child, Preschool ; Male ; Long-Term Care ; Developmental Disabilities - classification ; Gestational Age ; Infant, Premature ; Female ; Surveys and Questionnaires ; France ; Health Status ; Infant, Newborn ; Cohort Studies ; Databases, Factual ; Index Medicus ; Abridged Index Medicus
    ISSN: 0140-6736
    E-ISSN: 1474-547X
    Source: Backfile Package - All of Back Files EBS [ALLOFBCKF]
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  • 2
    Language: English
    In: The Journal of pediatrics, 2014, Vol.164 (3), p.445-450
    Subject(s): Pediatrics ; Diabetes, Gestational ; Metabolic Syndrome - etiology ; Prenatal Exposure Delayed Effects ; Obesity - complications ; Humans ; Congenital Abnormalities - etiology ; Child, Preschool ; Birth Injuries - etiology ; Hypertension - etiology ; Pregnancy ; Animals ; Fetal Death ; Fetal Macrosomia - etiology ; Respiratory Distress Syndrome, Newborn - etiology ; Hypoglycemia - congenital ; Adolescent ; Female ; Obesity - etiology ; Brachial Plexus - injuries ; Dyslipidemias - etiology ; Infant, Newborn ; Dystocia - etiology ; Infants (Newborn) ; Diabetes ; Index Medicus ; Abridged Index Medicus
    ISSN: 0022-3476
    E-ISSN: 1097-6833
    Source: Backfile Package - All of Back Files EBS [ALLOFBCKF]
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  • 3
    Language: English
    In: Pediatric research, 2020-01, Vol.87 (1), p.153-162
    Description: Parents of preterm neonates wish greater involvement in pain management; little is known about factors associated with this involvement. We aim to describe perceived maternal information on infants' pain during hospitalization (PMIP), to study associations between PMIP and mothers' attitudes during painful procedures, and to identify individual and contextual factors associated with PMIP. Analyses of questionnaires from the French national cohort study of preterm neonates, EPIPAGE-2. PMIP was derived from mothers' answers to questions about information perceived on both pain assessment and management. Among 3056 eligible neonates born before 32 weeks, 1974, with available maternal reports, were included in the study. PMIP was classified as "sufficient," "little, not sufficient," or "insufficient, or none" for 22.7, 45.9, and 31.3% of neonates, respectively. Mothers reporting PMIP as "sufficient" were more frequently present and more likely comforting their child during painful procedures. Factors independently associated with "sufficient" PMIP were high maternal education, gestational age 〈29 weeks, daily maternal visits, perception of high team support, and implementation of the neonatal and individualized developmental care and assessment program. Perceived maternal information on premature infants' pain reported as sufficient increased maternal involvement during painful procedures and was associated with some units' policies.
    Subject(s): Humans ; Pain Management ; Access to Information ; Male ; Hospitalization ; Health Knowledge, Attitudes, Practice ; Gestational Age ; Mothers - psychology ; Infant, Premature ; Maternal Behavior ; Female ; Surveys and Questionnaires ; Pain Measurement ; Infant, Newborn ; Pain ; Index Medicus ; Life Sciences ; Human health and pathology ; Pediatrics ; Medicin och hälsovetenskap
    ISSN: 0031-3998
    ISSN: 1530-0447
    E-ISSN: 1530-0447
    Source: Nature Open Access
    Source: Alma/SFX Local Collection
    Source: SWEPUB Freely available online
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  • 4
    Language: English
    In: BMJ open, 2020-06-22, Vol.10 (6), p.e035075-e035075
    Description: ObjectivesTo describe patterns of care for very preterm (VP) babies across neonatal intensive care units (NICUs) and associations with outcomes.DesignProspective cohort study, EPIPAGE-2.SettingFrance, 2011.Participants53 (NICUs); 2135 VP neonates born at 27 to 31 weeks.Outcome measuresClusters of units, defined by the association of practices in five neonatal care domains – respiratory, cardiovascular, nutrition, pain management and neurodevelopmental care. Mortality at 2 years corrected age (CA) or severe/moderate neuro-motor or sensory disabilities and proportion of children with scores below threshold on the neurodevelopmental Ages and Stages Questionnaire (ASQ).MethodsHierarchical cluster analysis to identify clusters of units. Comparison of outcomes between clusters, after adjustment for potential cofounders.ResultsThree clusters were identified: Cluster 1 with higher proportions of neonates free of mechanical ventilation at 24 hours of life, receiving early enteral feeding, and neurodevelopmental care practices (26 units; n=1118 babies); Cluster 2 with higher levels of patent ductus arteriosus and pain screening (11 units; n=398 babies); Cluster 3 with higher use of respiratory, cardiovascular and pain treatments (16 units; n=619 babies). No difference was observed between clusters for the baseline maternal and babies’ characteristics. No differences in outcomes were observed between Clusters 1 and 3. Compared with Cluster 1, mortality at 2 years CA or severe/moderate neuro-motor or sensory disabilities was lower in Cluster 2 (adjusted OR 0.46, 95% CI 0.25 to 0.84) but with higher proportion of children with an ASQ below threshold (adjusted OR 1.49, 95% CI 1.07 to 2.08).ConclusionIn French NICUs, care practices for VP babies were non-randomly associated. Differences between clusters were poorly explained by unit or population differences, but were associated with mortality and development at 2 years. Better understanding these variations may help to improve outcomes for VPT babies, as it is likely that some of these discrepancies are unwarranted.
    Subject(s): Infant, Very Low Birth Weight ; Humans ; Male ; Infant, Premature, Diseases - mortality ; Intensive Care Units, Neonatal - statistics & numerical data ; Gestational Age ; Infant, Premature ; Female ; Surveys and Questionnaires ; France ; Outcome Assessment, Health Care ; Longitudinal Studies ; Infant, Newborn ; Cohort Studies ; Intensive Care Units, Neonatal - standards ; Cluster analysis ; Ventilators ; Cerebral palsy ; Intensive care ; Nutrition ; Mortality ; Obstetrics ; Gestational age ; Babies ; Parents & parenting ; Pain ; Newborn babies ; Questionnaires ; Population ; Preferences ; Index Medicus
    ISSN: 2044-6055
    E-ISSN: 2044-6055
    Source: HighWire Press (Free Journals)
    Source: PubMed Central
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  • 5
    Language: English
    In: Paediatric and perinatal epidemiology, 2019-01, Vol.33 (1), p.59-69
    Description: Background Facilitating factors and barriers to breast milk feeding (BMF) very preterm (VP) infants have been widely studied at the individual level. We aimed to describe and analyse factors associated with BMF at discharge for VP infants, with a special focus on unit policies aiming to support BMF. Methods We described BMF at discharge in 3108 VP infants enrolled in EPIPAGE‐2, a French national cohort. Variables of interest were kangaroo care during the 1st week of life (KC); unit's policies supporting BMF initiation (BMF information systematically given to mothers hospitalised for threatened preterm delivery and breast milk expression proposed within 6 hours after birth) and BMF maintenance (availability of protocols for BMF and a special room for mothers to pump milk); the presence in units of a professional trained in human lactation and regional BMF initiation rates in the general population. Associations were investigated by multilevel logistic regression analysis, with adjustment on individual factors. Results In total, 47.2% of VP infants received BMF at discharge (range among units 21.1%‐84.0%). Unit policies partly explained this variation, regardless of individual factors. BMF at discharge was associated with KC (adjusted odds ratio (aOR) 2.26 (95% confidence interval (CI) 1.40, 3.65)), with policies supporting BMF initiation (aOR 2.19 (95% CI 1.27, 3.77)) and maintenance (aOR 2.03 (95% CI 1.17, 3.55)), but not with BMF initiation rates in the general population. Conclusion Adopting policies of higher performing units could be an effective strategy for increasing BMF rates at discharge among VP infants.
    Subject(s): Infants (Premature) ; Analysis ; Autonomy ; Index Medicus ; Medicin och hälsovetenskap
    ISSN: 0269-5022
    ISSN: 1365-3016
    E-ISSN: 1365-3016
    Source: Academic Search Ultimate
    Source: Alma/SFX Local Collection
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  • 6
    Language: English
    In: Archives of disease in childhood. Fetal and neonatal edition, 2013-11, Vol.98 (6), p.F480-F487
    Description: Objective Twins have inconsistently shown poorer outcomes than singletons. Although a high proportion of twins are born very preterm, data are sparse on the long-term outcomes in very preterm twins. The objective of this study was to compare mortality and neurodevelopmental outcomes of very preterm singletons and twins and to study outcomes in relation to factors specific to twins. Design Birth cohort study Etude Epidemiologique sur les Petits Ages Gestationnels (EPIPAGE). Setting Nine regions in France. Patients All very preterm live births occurring from 22 to 32 weeks of gestation in all maternity wards of nine French regions in 1997 (n=2773). Main outcomes measures Neurodevelopmental status, including cerebral palsy, and a cognitive assessment with the Kaufman Assessment Battery for Children, with scores on the Mental Processing Composite (MPC) scale, was available for 1732 and 1473 children at 5 years of age, respectively. Results Among live births, twins had higher hospital mortality than singletons (adjusted (a)OR: 1.4 (95% CI 1.1 to 1.9)). Among survivors, there was no crude difference at 5 years between twins and singletons in the prevalence of cerebral palsy (8.0% vs 9.1%, respectively), MPC 〈70 (9.5% vs 11.1%) and mean MPC (94.6 vs 94.4). However, after adjustment for sex, gestational age, intrauterine growth restriction and social factors, twins were more likely to have lower MPC scores (mean difference: −2.4 (95% CI–4.8 to 0.01)). Live born twins had a higher risk of mortality when birth weight discordance was present (aOR:2.9 (95% CI 1.7 to 4.8)), but there were no differences in long-term outcomes. Conclusions Compared with very preterm singletons, twins had higher mortality, no difference with respect to severe deficiencies, but slightly lower MPC scores at 5 years.
    Subject(s): Neurodevelopment ; Neurodisability ; Fetal Medicine ; Twins ; Epidemiology ; Gynecology. Andrology. Obstetrics ; Delivery. Postpartum. Lactation ; Maternal, fetal and perinatal monitoring ; Diseases of mother, fetus and pregnancy ; Biological and medical sciences ; Pregnancy. Fetus. Placenta ; Medical sciences ; Mental Processes - physiology ; Hospital Mortality ; Infant Mortality ; Humans ; Child, Preschool ; Infant ; Male ; Premature Birth - epidemiology ; Gestational Age ; Developmental Disabilities - epidemiology ; Pregnancy ; Infant, Premature ; Female ; Child Development - physiology ; France ; Infant, Premature, Diseases - epidemiology ; Infant, Newborn ; Pregnancy Outcome ; Pregnancy, Twin - statistics & numerical data ; Cohort Studies ; Infants (Premature) ; Analysis ; Research ; Comparative analysis ; Neurogenesis ; Health aspects ; Hypertension ; Cerebral palsy ; Placenta ; Premature birth ; Mortality ; Birth weight ; Blood pressure ; Health risk assessment ; Age ; Index Medicus ; Abridged Index Medicus ; Life Sciences ; Santé publique et épidémiologie
    ISSN: 1359-2998
    E-ISSN: 1468-2052
    Source: Alma/SFX Local Collection
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  • 7
    Language: English
    In: Nature genetics, 2002-02, Vol.30 (2), p.215-220
    Description: Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease.
    Subject(s): Fundamental and applied biological sciences. Psychology ; Classical genetics, quantitative genetics, hybrids ; Human ; Complex syndromes ; Medical genetics ; Biological and medical sciences ; Genetics of eukaryotes. Biological and molecular evolution ; Medical sciences ; Species Specificity ; Humans ; Child, Preschool ; Molecular Sequence Data ; Male ; Mutation, Missense ; Osteochondrodysplasias - genetics ; DNA Mutational Analysis ; Base Sequence ; Conserved Sequence ; Adult ; Female ; Child ; DNA Helicases - genetics ; Amino Acid Sequence ; Renal Insufficiency - genetics ; Genes, Recessive ; DNA - genetics ; Sequence Homology, Amino Acid ; Phenotype ; Animals ; Pedigree ; Adolescent ; Alleles ; Immunologic Deficiency Syndromes - genetics ; T-Lymphocytes - immunology ; Consanguinity ; Mutation ; Complications and side effects ; Dysplasia ; Gene mutations ; Diagnosis ; Research ; Nucleotide sequencing ; Health aspects ; Risk factors ; Methods ; Index Medicus
    ISSN: 1061-4036
    E-ISSN: 1546-1718
    Source: Single Journals
    Source: Academic Search Ultimate
    Source: Nature Journals Online
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  • 8
    Language: English
    In: The Journal of pediatrics, 2012, Vol.161 (6), p.1053-1058.e1
    Description: 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.
    Subject(s): Pediatrics ; Gynecology. Andrology. Obstetrics ; Biological and medical sciences ; General aspects ; Pregnancy. Fetus. Placenta ; Medical sciences ; Diseases of mother, fetus and pregnancy ; Infant, Premature - psychology ; Follow-Up Studies ; Humans ; Child, Preschool ; Male ; Cognition ; Birth Weight ; Growth Charts ; Female ; Surveys and Questionnaires ; Infant, Small for Gestational Age - psychology ; Psychological Tests ; Achievement ; Child ; Infant, Newborn ; Growth ; Fetus ; Analysis ; Index Medicus ; Abridged Index Medicus ; Life Sciences ; Santé publique et épidémiologie
    ISSN: 0022-3476
    E-ISSN: 1097-6833
    Source: Backfile Package - All of Back Files EBS [ALLOFBCKF]
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  • 9
    Language: English
    In: American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.531-536
    Description: Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features. Sanger sequencing of the CACNA1C gene, followed by sequencing of the genes KCNQ1, KCNH2, KCNE1, KCNE2, were negative. The subsequent analysis of a panel of genes responsible for hereditary cardiac rhythm disorders using Haloplex technology revealed a recurrent mosaic p.Gly406Arg missense mutation of the CACNA1C gene in 18% of the cells. This mosaicism can explain the negative Sanger analysis and the less complete phenotype in this patient. Given the other cases in the literature, mosaic mutations in Timothy syndrome appear more common than previously thought. This case demonstrates the importance of using next‐generation sequencing to identify mosaic mutations when the clinical picture supports a specific mutation that is not identified using conventional testing. © 2016 Wiley Periodicals, Inc.
    Subject(s): Timothy syndrome ; mosaic mutation ; CACNA1C ; syndactyly ; next‐generation sequencing ; long‐QT ; Autistic Disorder - genetics ; Genetic Association Studies ; Humans ; Long QT Syndrome - diagnosis ; Phenotype ; Calcium Channels, L-Type - genetics ; Codon ; DNA Mutational Analysis ; Alleles ; Electrocardiography ; Long QT Syndrome - genetics ; Female ; Mosaicism ; High-Throughput Nucleotide Sequencing ; Mutation ; Autistic Disorder - diagnosis ; Child ; Syndactyly - diagnosis ; Amino Acid Substitution ; Syndactyly - genetics ; Analysis ; Genes ; Electrocardiogram ; Genetic research ; Genetic aspects ; Nucleotide sequencing ; DNA sequencing ; Index Medicus ; Life Sciences ; Genetics
    ISSN: 1552-4825
    E-ISSN: 1552-4833
    Source: Alma/SFX Local Collection
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  • 10
    Language: English
    In: Pediatrics (Evanston), 2009-06-01, Vol.123 (6), p.1485-1492
    Description: We compared the frequency of behavioral problems in very preterm and term children at 5 years of age. We hypothesized that behavioral problems would be associated with cognitive impairment and environmental factors and that differences between the 2 groups would be reduced but persist after adjusting for cognitive performance and environmental factors. The Etude Epidémiologique sur les Petits Ages Gestationnels (EPIPAGE) study was a prospective population-based cohort study that included all births occurring between 22 and 32 weeks' gestation and a control group of infants born at 39 to 40 weeks' gestation in 1997 in 9 French regions. Neonatal and obstetrics data were collected at birth. At 5 years of age, sociodemographic status and neurodevelopmental and cognitive development of the children, as well as maternal mental well-being, were assessed. The behavioral problems of 1102 very preterm and 375 term singletons without major impairments were studied by using the parent-completed Strengths and Difficulties Questionnaire. Parents of very preterm children reported significantly more behavioral problems, with a twofold higher prevalence compared with term children for hyperactivity/inattention, emotional symptoms, and peer problems. Behavioral problems were associated with low cognitive performance, developmental delay, hospitalizations of the child, young maternal age, and poor maternal mental well-being. Very preterm children were still at higher risk of behavioral problems compared with term children after adjustment for cognitive performance and all others factors. Behavioral problems were strongly related to cognitive impairment, but very preterm children were still at higher risk even after adjusting for cognitive performance. Early screening for behavioral problems should be encouraged for all very preterm children, and maternal well-being should also be the focus of special attention.
    Subject(s): Gynecology. Andrology. Obstetrics ; Public health. Hygiene-occupational medicine ; Public health. Hygiene ; General aspects ; Miscellaneous ; Diseases of mother, fetus and pregnancy ; Biological and medical sciences ; Pregnancy. Fetus. Placenta ; Medical sciences ; Affective Symptoms - diagnosis ; Affective Symptoms - epidemiology ; Prospective Studies ; Infant, Very Low Birth Weight ; Humans ; Child, Preschool ; Hospitalization - statistics & numerical data ; Peer Group ; Infant ; Male ; Risk ; Social Environment ; Case-Control Studies ; Child Behavior Disorders - epidemiology ; Female ; Attention Deficit Disorder with Hyperactivity - diagnosis ; France ; Infant, Premature, Diseases - epidemiology ; Developmental Disabilities - diagnosis ; Infant, Newborn ; Child Behavior Disorders - diagnosis ; Cross-Sectional Studies ; Infant, Premature, Diseases - diagnosis ; Gestational Age ; Developmental Disabilities - epidemiology ; Cognition Disorders - diagnosis ; Social Adjustment ; Cognition Disorders - epidemiology ; Longitudinal Studies ; Attention Deficit Disorder with Hyperactivity - epidemiology ; Psychological aspects ; Cohort analysis ; Demographic aspects ; Premature birth ; Cognition in children ; Reports ; Research ; Cognitive development ; Behaviour problems ; Behavior problems ; Index Medicus ; Abridged Index Medicus
    ISSN: 0031-4005
    E-ISSN: 1098-4275
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
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