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Background Genetic disorders are recognized as key contributors to morbidity, mortality, and congenital anomalies in term infants. However, the rates of diagnosis and association with morbidity, mortality, and congenital anomalies in preterm infants are poorly characterized. We sought to determine rates of diagnosis of genetic disorders in preterm infants and to define the association of genetic disorders with morbidity, mortality, and congenital anomalies. Methods This was a multicenter observational cohort study conducted in neonatal intensive care units in the Pediatrix Clinical Data Warehouse. Infants born from 23 to 0/7 to 33 and 6/7 weeks of gestation, admitted to 374 U.S. community and academic neonatal intensive care units from 2000 to 2020 were included. Infants transferred after birth or prior to discharge were excluded. We analyzed diagnosis of genetic disorders; predischarge morbidity (including acute kidney injury, bronchopulmonary dysplasia, necrotizing enterocolitis, sepsis, shock, severe retinopathy, and intracranial hemorrhage); mortality; and presence of congenital anomalies. Results Among 323,770 early preterm infants analyzed, 4,196 (1.3%) were diagnosed with one of twenty genetic disorders. Single gene disorders were identified in 2,250 (0.7%) infants, copy number variants in 88 (0.03%) infants, and aneuploidies in 1,885 (0.6%) infants. Morbidity, mortality, and congenital anomalies occurred in 1,319 (31.4%), 566 (13.5%), and 1,041 (24.8%) infants with genetic disorders compared to 77,957 (24.5%), 15,240 (4.7%), and 9,455 (3.0%) infants without genetic disorders. Common aneuploidies accounted for most of these associations. However, morbidity, mortality, and congenital anomalies were also significantly more common in early preterm infants with single gene disorders and pathogenic copy number variants. We did not detect meaningful differences in diagnostic rates of genetic disorders over the study period. Conclusions 1.3% of early preterm infants were diagnosed with genetic disorders. Genetic disorders were strongly associated with morbidity, mortality, and congenital anomalies. Clinicians should strongly consider genetic evaluation in early preterm infants with morbidity, mortality, or congenital anomalies. Prospective research is needed to determine the true prevalence of genetic disorders in this high-risk population.

This study of U.S. neonatal intensive care units from 2004 through 2013 showed a substantial increase over time in admissions for the neonatal abstinence syndrome and increases in associated length of stay and the percentage of NICU days nationwide attributed to the syndrome. The neonatal abstinence syndrome is a drug-withdrawal syndrome that most commonly occurs after in utero exposure to opioids. It typically manifests in the first few days of life as hypertonia, autonomic instability, irritability, poor sucking reflex, impaired weight gain, and less commonly, seizures. 1 From 2000 through 2009, the incidence of the neonatal abstinence syndrome in the United States nearly tripled, 2 with several states reporting even larger recent increases. 3 , 4 This rise occurred in association with an increase in the use of opioids by pregnant women. 5 – 8 Despite the increased incidence of the neonatal abstinence syndrome, data on changes in the . . .

The putamen has a somatotopic organization of neurons identified by correspondence of firing rates with selected body part movements, as well as by complex, but organized, differential cortical projections onto putamen. In isolated focal dystonia, whole putaminal binding of dopamine D2-like receptor radioligands is quantitatively decreased, but it has not been known whether selected parts of the putamen are differentially affected depending upon the body part affected by dystonia. The radioligand [(18)F]spiperone binds predominantly to D2-like receptors in striatum. We hypothesized that the spatial location of [(18)F]spiperone binding within the putamen would differ in patients with dystonia limited to the hand versus the face, and we tested that hypothesis using positron emission tomography and magnetic resonance imaging. To address statistical and methodological concerns, we chose a straightforward but robust image analysis method. An automated algorithm located the peak location of [(18)F]spiperone binding within the striatum, relative to a brain atlas, in each of 14 patients with cranial dystonia and 8 patients with hand dystonia. The mean (left and right) |x|, y, and z coordinates of peak striatal binding for each patient were compared between groups by t test. The location of peak [(18)F]spiperone binding within the putamen differed significantly between groups (cranial dystonia z

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