Neonatal Respiratory Distress
Respiratory disorders are the most frequent cause of admission to the special care nursery both in term and preterm infants. Pediatricians and primary care providers may encounter newborn infants with…
Metabolic Screening and Postnatal Glucose Homeostasis in the Newborn
Although individual metabolic diseases are relatively uncommon, inherited metabolic diseases collectively represent a more common cause of disease in the neonatal period than is generally appreciated. Newborn screening is among…
Initial Assessment and Management of the Newborn
This article summarizes the initial assessment of normal newborns and describes a few of the common variations that may occur. These variations require a pediatric provider to reassure anxious new…
The Healthy and Sick Newborn
Bonita F. Stanton, MD, Consulting Editor Few times in the life of parents are associated with as much anticipation, excitement, and anxiety as pregnancy and the newborn period. Likewise, a…
The Problem Baby: Too Much Information
David A. Clark, MD, Editor The medical care of acutely ill neonates has become increasingly complex. Advances in virtually every basic science discipline have refined our understanding of the basic…
Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders
Genetic testing for neurologic and developmental disorders spans the spectrum from universal newborn screening for conditions like phenylketonuria to diagnostic testing for suspected genetic conditions, to predictive genetic testing for…
Pediatric Charcot-Marie-Tooth Disease
Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population….
Spinal Muscular Atrophies
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival…
Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy
Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents…
