Key Points The phenotypic spectrum of glycosylation disorders is broad and ranges from mild to severe and from single-organ system to multisystem disease; glycosylation defects should be considered in any unexplained clinical condition, but especially in multiorgan disease with neurologic…
Key Points Lysosomal storage diseases are a genetically and phenotypically heterogeneous group of metabolic disorders caused by multisystemic accumulation of complex substrates. Clinical manifestations of lysosomal storage diseases in the neonatal period are myriad, including nonimmune hydrops fetalis, respiratory distress,…
Acute, life-threatening disease during the newborn period is a feature of many inborn errors of metabolism, including those of ammonia, carbohydrate, amino acid, fatty acid, ketone, and mitochondrial energy metabolism. Therefore, it is critical that neonatologists are familiar with the…
Key Points Early identification of an underlying genetic condition in a patient can aid in defining a treatment plan and help to identify resources for better care for patients and their families. In counseling the family of a newborn with…
Key Points A genetic diagnosis can direct medical care (treatment, screening for other anomalies or issues that will arise in the future), provide information about prognosis, and give a recurrence risk to families. A genetics evaluation should be considered for…
Key Points All pregnant women should have the option to undergo prenatal screening/diagnosis for genetic conditions and/or birth defects. Specific indications for genetic counseling and prenatal diagnosis testing include a history of chromosome abnormality, Mendelian genetic disorder, or metabolic disorder;…
Key Points Twenty percent of infant deaths in the United States and a larger portion of infant deaths in the NICU have been attributed to chromosomal and congenital anomalies, with the prevalence increasing with the expanded use of genetic diagnostic…
Key Points Preterm and critically ill infants are at high risk for cognitive and motor development problems, neurobehavioral and executive function problems, learning and academic problems, neurosensory problems, and poor functional outcomes. Neonatal morbidities, socioeconomic factors, and early interventions can…
Key Points Palliative care is the total care of a patient with a life-limiting illness regardless of the disease trajectory or treatment options chosen. There is a special focus on pain/symptom management, communication, quality of life, family support, and grief…
Key Points Pain and discomfort in infants are common occurrences in intensive care. Identification and management of neonatal pain remain challenging. Many neonatal pain scoring tools assist in classifying pain, but many were not validated in clinical practice. Neonatal pain…