Sarah B Mulkey

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OBJECTIVE To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2(More)
BACKGROUND Brain injury is observed on cranial magnetic resonance imaging preoperatively in up to 50% of newborns with congenital heart disease. Newer imaging techniques such as diffusion tensor imaging provide sensitive measures of the white matter integrity. The objective of this study was to evaluate the diffusion tensor imaging analysis technique of(More)
OBJECTIVE To evaluate test proficiency and the receipt of special education services in school-age children who had undergone surgery for congenital heart disease (CHD) at age <1 year. STUDY DESIGN Data from Arkansas-born children who underwent surgery for CHD at Arkansas Children's Hospital at age <1 year between 1996 and 2004 were linked to state birth(More)
The volume of acute injury detected by diffusion-weighted imaging and quantitative brain growth on serial cranial magnetic resonance imaging was not previously used to predict neurodevelopmental outcomes in infants with neonatal hypoxic-ischemic encephalopathy treated with head cooling. Our longitudinal study involved 16 head-cooled term infants with(More)
Children with early surgery for congenital heart disease (CHD) are known to have impaired neurodevelopment; their performance on school-age achievement tests and their need for special education remains largely unexplored. The study aimed to determine predictors of academic achievement at school age and placement in special education services among early(More)
Atypical resonances on proton magnetic resonance spectroscopy (MRS) examinations are occasionally found in children undergoing a metabolic evaluation for neurological conditions. While a radiologist’s first instinct is to suspect a pathological metabolite, usually the origin of the resonance arises from an exogenous source. We report the appearance of(More)
944. Perinatal Case Fatality Rate Related to Congenital Zika Syndrome in Brazil: a Cross-Sectional Study Igor Thiago Queiroz, MD, PhD; Jessika Thais Da Silva Maia, MS; Gleysson Rosa, RN, MD; Tatyana Vidal Mendes, RN; S. Jayne Alves Vidal, RN; Maria Goretti Lins, MD; Marcelo Rodrigues Zacarkim, MD, MS; David Aronoff, MD, FIDSA; A. Desiree Labeaud, MD, MS;(More)
BACKGROUND Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy. Brain magnetic resonance imaging and magnetic resonance angiography may reveal cerebral infarction and arteriopathy. PATIENT DESCRIPTION We describe a neonate with the typical rash of incontinentia pigmenti(More)
Neonatal neurology is a growing subspecialty area. Given the considerable amount of neurologic problems present in the neonatal intensive care unit, a neurologist with expertise in neonates is becoming more important. We sought to evaluate the change in neurologic care in the neonatal intensive care unit at our tertiary care hospital by having a dedicated(More)
BACKGROUND Congenital Zika infection can result in a spectrum of neurological abnormalities in the newborn. Newborns exposed to Zika virus in utero often have neuroimaging as part of their clinical evaluation. METHODS Through the Congenital Zika Program at Children's National Health System in Washington DC, we performed fetal or neonatal neuroimaging,(More)