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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
- Source :
- Am J Med Genet A, American journal of medical genetics. Part A, vol 179, iss 8
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- 1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., "birth history was notable in 50% of the cases for varying degrees of perinatal distress." Given the potential for perinatal distress, seizures and PVL, we questioned if this disorder has clinical overlap with hypoxic ischemic encephalopathy (HIE). We reviewed the medical records of 69 individuals with 1p36 deletion to clarify the perinatal phenotype of this disorder and determine if there is evidence of perinatal distress and/or hypoxic injury. Our data provides evidence that these babies have signs of perinatal distress. The majority (59% term; 75% preterm) needed resuscitation and approximately 18% had cardiac arrest. Most had abnormal brain imaging (84% term; 73% preterm) with abnormal white matter findings in over half of patients. PVL or suggestion of "hypoxic insult" was present in 18% of term and 45% of preterm patients. In conclusion, individuals with 1p36 deletion have evidence of perinatal distress, white matter changes, and seizures, which can mimic HIE but are likely related to their underlying chromosome disorder.
- Subjects :
- Male
0301 basic medicine
Pediatrics
Resuscitation
Chromosome Disorders
Reproductive health and childbirth
Neurodegenerative
030105 genetics & heredity
Low Birth Weight and Health of the Newborn
Psychological Distress
Hypoxic Ischemic Encephalopathy
Pregnancy
Diagnosis
Infant Mortality
2.1 Biological and endogenous factors
Medicine
Aetiology
Genetics (clinical)
Pediatric
Medical record
Brain
Phenotype
medicine.anatomical_structure
Chromosomes, Human, Pair 1
Neurological
Hypoxia-Ischemia, Brain
Pair 1
Mental health
Female
Chromosome Deletion
Human
medicine.medical_specialty
Physical Injury - Accidents and Adverse Effects
hypoxic ischemic encephalopathy
Intellectual and Developmental Disabilities (IDD)
Clinical Sciences
Chromosome Disorder
Chromosomes
Article
Diagnosis, Differential
White matter
03 medical and health sciences
Neuroimaging
Clinical Research
Preterm
Hypoxia-Ischemia
Genetics
Humans
1p36
Epilepsy
Periventricular leukomalacia
1p36 deletion syndrome
business.industry
Neurosciences
Infant, Newborn
Infant
distress
Perinatal Period - Conditions Originating in Perinatal Period
Newborn
medicine.disease
Brain Disorders
Good Health and Well Being
030104 developmental biology
Differential
business
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 179
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....666822da8ce421ba9792ab05c0ea6ac9