Younger gestational age is associated with increased risk of adverse neurodevelopmental outcome during infancy in congenital diaphragmatic hernia

2016 ◽  
Vol 51 (7) ◽  
pp. 1084-1090 ◽  
Author(s):  
Enrico Danzer ◽  
Marsha Gerdes ◽  
Jo Ann D'Agostino ◽  
Judy Bernbaum ◽  
Casey Hoffman ◽  
...  
Author(s):  
H. Bouchghoul ◽  
G. Dumery ◽  
F. M. Russo ◽  
A. G. Cordier ◽  
N. Le Sache ◽  
...  

2018 ◽  
Vol 07 (04) ◽  
pp. 164-173 ◽  
Author(s):  
Ian Campbell ◽  
Samantha Stover ◽  
Andres Hernandez-Garcia ◽  
Shalini Jhangiani ◽  
Jaya Punetha ◽  
...  

AbstractWolf–Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In this report, we describe a stillborn girl with WHS and a large CDH. A literature review revealed 15 cases of WHS with CDH, which overlap a 2.3-Mb CDH critical region. We applied a machine-learning algorithm that integrates large-scale genomic knowledge to genes within the 4p16.3 CDH critical region and identified FGFRL1, CTBP1, NSD2, FGFR3, CPLX1, MAEA, CTBP1-AS2, and ZNF141 as genes whose haploinsufficiency may contribute to the development of CDH.


BMJ Open ◽  
2017 ◽  
Vol 7 (11) ◽  
pp. e017845 ◽  
Author(s):  
Simon Nusinovici ◽  
Bertrand Olliac ◽  
Cyril Flamant ◽  
Jean-Baptiste Müller ◽  
Marion Olivier ◽  
...  

ObjectiveThe objective of this study was to investigate both the effects of low gestational age and infant’s neurodevelopmental outcome at 2 years of age on the risk of parental separation within 7 years of giving birth.DesignProspective.Setting24 maternity clinics in the Pays-de-la-Loire region.ParticipantsThis study included 5732 infants delivered at <35 weeks of gestation born between 2005 and 2013 who were enrolled in the population-based Loire Infant Follow-up Team cohort and who had a neurodevelopmental evaluation at 2 years. This neurodevelopmental evaluation was based on a physical examination, a psychomotor evaluation and a parent-completed questionnaire.Outcome measureRisk of parental separation (parents living together or parents living separately).ResultsTen percent (572/5732) of the parents reported having undergone separation during the follow-up period. A mediation analysis showed that low gestational age had no direct effect on the risk of parental separation. Moreover, a non-optimal neurodevelopment at 2 years was associated with an increased risk of parental separation corresponding to a HR=1.49(1.23 to 1.80). Finally, the increased risk of parental separation was aggravated by low socioeconomic conditions.ConclusionsThe effect of low gestational age on the risk of parental separation was mediated by the infant’s neurodevelopment.


2015 ◽  
Vol 35 (11) ◽  
pp. 1048-1056 ◽  
Author(s):  
Katika Nawapun ◽  
Mary Patrice Eastwood ◽  
Daysi Diaz-Cobos ◽  
Julio Jimenez ◽  
Michael Aertsen ◽  
...  

2019 ◽  
Vol 229 (4) ◽  
pp. S214
Author(s):  
Ariela L. Zenilman ◽  
Kenneth S. Azarow ◽  
Timothy M. Crombleholme ◽  
George B. Mychaliska ◽  
Brad Warner ◽  
...  

2019 ◽  
Vol 32 (6) ◽  
pp. 597-606 ◽  
Author(s):  
An Eerdekens ◽  
Gunnar Naulaers ◽  
Els Ortibus ◽  
Johan Verhaeghe ◽  
Lies Langouche ◽  
...  

Abstract Background For several decades, transient hypothyroxinemia of prematurity (THOP) has been a topic of debate. The pathophysiology is incompletely understood and consensus on the therapeutic approach is lacking. This study aimed at gaining a better insight into the pathogenesis by studying the trends in thyroid hormone (TH) levels during the first week of life. Methods This single-center prospective observational study analyzed the plasma levels of total thyroxine (T4) and free thyroxine (fT4), total triiodothyronine (T3), thyroid-stimulating hormone (TSH) and T4-binding globulin (TBG) in cord blood and at the end of the first week of life in 120 preterm infants (gestational age [GA] <37 weeks). The change over time was calculated (delta, ∆). The impact of perinatal and subsequently postnatal variables on ∆ was studied by hierarchical multiple regression. The impact of ∆ on the neurodevelopmental outcome at the corrected ages of 9 and 24 months, measured by the Bayley Scales of Infant Development (BSID)-II, was assessed by logistic regression. Results ∆fT4 levels were negatively affected by GA and use of dopamine, whereas only GA was associated with low ∆T3 levels. Negative ∆fT4 levels were present in 75% of the extremely low-for-gestational-age infants, whereas 23.5% had a negative ∆T3 level. There was an increased risk for an abnormal mental developmental score (<85) with decreasing ∆T3 at 9 months, corrected age, but not at 24 months. Conclusions A negative evolution in circulating TH levels is principally an immaturity phenomenon, whereas dopamine can further suppress the hypothalamic-pituitary-thyroid axis. There is at least a temporary negative effect of this evolution on the infants’ neurodevelopment.


2019 ◽  
Vol 2 (3) ◽  
pp. e000037
Author(s):  
Julia Kate Gunn-Charlton ◽  
Alice C Burnett ◽  
Stephanie Malarbi ◽  
Margaret M Moran ◽  
Esther A Hutchinson ◽  
...  

ObjectivePrevious outcome reports of congenital diaphragmatic hernia (CDH) have described neuroimaging anomalies and neurodevelopmental impairment. However, the link between imaging and outcome has not been described. We aimed to determine whether routine postoperative neonatal neuroimaging in infants with CDH detects later neurodevelopmental impairment.MethodsIn a prospective cohort study within a clinical service in The Royal Children’s Hospital Newborn Intensive Care. Cerebral ultrasound was performed in 81 children and MRI in 57 children who subsequently underwent neurodevelopmental follow-up after surgery for CDH. MRI scans were analyzed using a scoring system designed to identify injury, maturation and volume loss. Neurodevelopmental assessment occurred at 2 years (48) and neurocognitive assessment at 5 years (26) and/or 8 years (27). Brain imaging scores corrected for gestational age at scan time were correlated with outcome measures, adjusting for known clinical confounders.ResultsClinically significant findings were identified on MRI of 16 (28%) infants. Mean scores were in the normal range for all domains assessed at each age. Language impairment was seen in 23% at 2 years and verbal intellectual impairment in 25% at 8 years. Mean cognitive scores were lower in 2-year-old children with white matter injury on MRI (p=0.03). Mean motor scores were lower in 2-year-old children with brain immaturity (p=0.01). Associations between MRI and 5-year and 8-year assessments were no longer significant when adjusting for known clinical confounders.ConclusionsNeuroimaging abnormalities were associated with worse neurodevelopment at 2 years, but not with later neurocognitive outcomes, after accounting for clinical risk factors.


Sign in / Sign up

Export Citation Format

Share Document