PMID- 38518503
OWN - NLM
STAT- MEDLINE
DCOM- 20240415
LR  - 20240501
IS  - 1873-5150 (Electronic)
IS  - 0887-8994 (Linking)
VI  - 154
DP  - 2024 May
TI  - Genetic and Congenital Anomalies in Infants With Hypoxic-Ischemic Encephalopathy.
PG  - 44-50
LID - S0887-8994(24)00057-2 [pii]
LID - 10.1016/j.pediatrneurol.2024.02.007 [doi]
AB  - BACKGROUND: Infants with hypoxic ischemic encephalopathy (HIE) may have 
      underlying conditions predisposing them to hypoxic-ischemic injury during labor 
      and delivery. It is unclear how genetic and congenital anomalies impact outcomes 
      of HIE. METHODS: Infants with HIE enrolled in a phase III trial underwent genetic 
      testing when clinically indicated. Infants with known genetic or congenital 
      anomalies were excluded. The primary outcome, i.e., death or neurodevelopmental 
      impairment (NDI), was determined at age two years by a standardized neurological 
      examination, Bayley Scales of Infant Development, Third Edition (BSID-III), and 
      the Gross Motor Function Classification Scales. Secondary outcomes included 
      cerebral palsy and BSID-III motor, cognitive, and language scores at age two 
      years. RESULTS: Of 500 infants with HIE, 24 (5%, 95% confidence interval 3% to 
      7%) were diagnosed with a genetic (n = 15) or congenital (n = 14) anomaly. 
      Infants with and without genetic or congenital anomalies had similar rates of 
      severe encephalopathy and findings on brain magnetic resonance imaging. However, 
      infants with genetic or congenital anomalies were more likely to have death or 
      NDI (75% vs 50%, P = 0.02). Among survivors, those with a genetic or congenital 
      anomaly were more likely to be diagnosed with cerebral palsy (32% vs 13%, 
      P = 0.02), and had lower BSID-III scores in all three domains than HIE survivors 
      without such anomalies. CONCLUSIONS: Among infants with HIE, 5% were diagnosed 
      with a genetic or congenital anomaly. Despite similar clinical markers of HIE 
      severity, infants with HIE and a genetic or congenital anomaly had worse 
      neurodevelopmental outcomes than infants with HIE alone.
CI  - Published by Elsevier Inc.
FAU - Morell, Adriana S
AU  - Morell AS
AD  - Department of Neurology, University of California San Francisco, San Francisco, 
      California. Electronic address: adriana.morell@ucsf.edu.
FAU - Monsell, Sarah E
AU  - Monsell SE
AD  - Department of Biostatistics, University of Washington, Seattle, Washington.
FAU - Cornet, Marie-Coralie
AU  - Cornet MC
AD  - Department of Pediatrics, University of California San Francisco, San Francisco, 
      California.
FAU - Wisnowski, Jessica L
AU  - Wisnowski JL
AD  - Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, 
      California; Department of Radiology, Children's Hospital Los Angeles, Los 
      Angeles, California.
FAU - McKinstry, Robert C
AU  - McKinstry RC
AD  - Department of Radiology, Washington University School of Medicine, St. Louis, 
      Missouri.
FAU - Mathur, Amit M
AU  - Mathur AM
AD  - Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, 
      Missouri.
FAU - Li, Yi
AU  - Li Y
AD  - Department of Radiology and Biomedical Imaging, University of California San 
      Francisco, San Francisco, California.
FAU - Glass, Hannah C
AU  - Glass HC
AD  - Department of Neurology, University of California San Francisco, San Francisco, 
      California; Department of Pediatrics, University of California San Francisco, San 
      Francisco, California; Department of Epidemiology and Biostatistics, University 
      of California, San Francisco, San Francisco, California.
FAU - Gonzalez, Fernando F
AU  - Gonzalez FF
AD  - Department of Pediatrics, University of California San Francisco, San Francisco, 
      California.
FAU - Mayock, Dennis E
AU  - Mayock DE
AD  - Department of Pediatrics, University of Washington School of Medicine, Seattle, 
      Washington.
FAU - Benninger, Kristen L
AU  - Benninger KL
AD  - Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio.
FAU - Van Meurs, Krisa P
AU  - Van Meurs KP
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, 
      California.
FAU - Lampland, Andrea L
AU  - Lampland AL
AD  - Department of Neonatology, Children's Minnesota, St. Paul, Minnesota.
FAU - Wu, Tai-Wei
AU  - Wu TW
AD  - Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, 
      California; Department of Pediatrics, University of Southern California Keck 
      School of Medicine, Los Angeles, California.
FAU - Riley, David
AU  - Riley D
AD  - Department of Pediatrics, Cook Children's Medical Center, Ft. Worth, Texas; 
      Department of Pediatrics, Texas Christian University, Ft. Worth, Texas; 
      Department of Pediatrics, University of North Texas Health Science Center, Ft. 
      Worth, Texas.
FAU - Mietzsch, Ulrike
AU  - Mietzsch U
AD  - Department of Pediatrics, University of Washington School of Medicine, Seattle, 
      Washington; Department of Pediatrics, Indiana University School of Medicine, 
      Indianapolis, Indiana.
FAU - Chalak, Lina
AU  - Chalak L
AD  - Department of Pediatrics, The University of Texas Southwestern Medical Center, 
      Dallas, Texas.
FAU - Flibotte, John
AU  - Flibotte J
AD  - Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, 
      Pennsylvania; Department of Pediatrics, University of Pennsylvania School of 
      Medicine, Philadelphia, Pennsylvania.
FAU - Weitkamp, Joern-Hendrick
AU  - Weitkamp JH
AD  - Department of Pediatrics, Vanderbilt University Medical Center, Nashville, 
      Tennessee.
FAU - Ahmad, Kaashif A
AU  - Ahmad KA
AD  - Pediatrix Medical Group of San Antonio, San Antonio, Texas; Department of 
      Pediatrics, Children's Hospital of San Antonio, San Antonio, Texas; Department of 
      Pediatrics, Methodist Children's Hospital, San Antonio, Texas.
FAU - Yanowitz, Toby D
AU  - Yanowitz TD
AD  - Department of Pediatrics, University of Pittsburgh School of Medicine, 
      Pittsburgh, Pennsylvania; Department of Pediatrics, Children's Hospital of 
      Pittsburgh of UPMC, Pittsburgh, Pennsylvania; Department of Pediatrics, Magee 
      Women's Hospital of UPMC, Pittsburgh, Pennsylvania.
FAU - Baserga, Mariana
AU  - Baserga M
AD  - Department of Pediatrics, University of Utah, Salt Lake City, Utah.
FAU - Merhar, Stephanie
AU  - Merhar S
AD  - Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of 
      Medicine, Cincinnati, Ohio.
FAU - Rao, Rakesh
AU  - Rao R
AD  - Department of Pediatrics, Washington University School of Medicine, St. Louis, 
      Missouri.
FAU - Sokol, Gregory M
AU  - Sokol GM
AD  - Department of Pediatrics, Indiana University School of Medicine, Indianapolis, 
      Indiana.
FAU - Comstock, Bryan A
AU  - Comstock BA
AD  - Department of Biostatistics, University of Washington, Seattle, Washington.
FAU - Heagerty, Patrick J
AU  - Heagerty PJ
AD  - Department of Biostatistics, University of Washington, Seattle, Washington.
FAU - Juul, Sandra E
AU  - Juul SE
AD  - Department of Pediatrics, University of Washington School of Medicine, Seattle, 
      Washington.
FAU - Wu, Yvonne W
AU  - Wu YW
AD  - Department of Neurology, University of California San Francisco, San Francisco, 
      California; Department of Pediatrics, University of California San Francisco, San 
      Francisco, California.
LA  - eng
PT  - Journal Article
DEP - 20240220
PL  - United States
TA  - Pediatr Neurol
JT  - Pediatric neurology
JID - 8508183
SB  - IM
MH  - Infant
MH  - Child
MH  - Humans
MH  - Child, Preschool
MH  - *Hypoxia-Ischemia, Brain/complications/diagnostic imaging/genetics
MH  - *Cerebral Palsy/complications
MH  - Magnetic Resonance Imaging/methods
MH  - Brain
MH  - *Hypothermia, Induced/methods
OTO - NOTNLM
OT  - Congenital anomaly
OT  - Genetic anomaly
OT  - Hypoxic-ischemic encephalopathy
OT  - Neonatal
COIS- Declaration of competing interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2024/03/23 05:42
MHDA- 2024/04/15 06:44
CRDT- 2024/03/22 19:09
PHST- 2023/09/07 00:00 [received]
PHST- 2024/02/01 00:00 [revised]
PHST- 2024/02/14 00:00 [accepted]
PHST- 2024/04/15 06:44 [medline]
PHST- 2024/03/23 05:42 [pubmed]
PHST- 2024/03/22 19:09 [entrez]
AID - S0887-8994(24)00057-2 [pii]
AID - 10.1016/j.pediatrneurol.2024.02.007 [doi]
PST - ppublish
SO  - Pediatr Neurol. 2024 May;154:44-50. doi: 10.1016/j.pediatrneurol.2024.02.007. 
      Epub 2024 Feb 20.