NeoReviews最新文献

Inborn errors of metabolism are a heterogeneous group of genetic disorders caused by deficiencies in specific enzymes or proteins, leading to toxic substrate accumulation or deficient product formation. Enzyme replacement therapy (ERT) has emerged as a transformative treatment, particularly for lysosomal storage disorders such as infantile-onset Pompe disease. This review explores the evolution, clinical application, and emerging innovations in ERT, focusing on disorders that present during the neonatal and infantile period. Treatment of patients with Pompe disease illustrates the benefits and limitations of ERT. Early intravenous administration of recombinant acid alpha-glucosidase has dramatically improved survival and cardiac function in affected infants. However, challenges such as immunogenicity, limited central nervous system penetration, and variable skeletal muscle response persist. Novel approaches, such as in utero enzyme replacement therapy, show promise in enhancing outcomes through early intervention and immune tolerance induction. This review also examines ERT in other infantile disorders, outlining efficacy and limitations. Expanding therapeutic frontiers-including gene therapy, gene editing, substrate reduction therapy, and stem cell transplantation-are discussed as complementary or alternative strategies. Despite its success, ERT faces barriers including high cost, limited global access, and the need for ongoing surveillance of long-term outcomes. Addressing these challenges requires investment in research, expanded newborn screening, and equitable access to care. ERT continues to reshape the prognosis of several fatal pediatric metabolic disorders, offering hope for improved quality of life and survival through early and innovative interventions.

Although neonatal neurocritical care (NNCC) programs have existed for decades and have been linked to improved outcomes in high-risk neonates, relatively few institutions have these models in place, and guidance on program development is limited. Designing am NNCC program includes the following: (1) targeting high-risk clinical populations such as infants with hypoxic-ischemic encephalopathy, seizures, and posthemorrhagic hydrocephalus, (2) collaborating with multidisciplinary team members, (3) ensuring availability of equipment to collect key clinical information, including electroencephalograms, cranial ultrasounds, and brain magnetic resonance imaging scans, (4) developing evidence-based pathways, and (5) prioritizing access to follow-up care after discharge. Program implementation requires a needs assessment, financial planning, onboarding and training, and ongoing quality improvement efforts. Importantly, the program should align with parental values and expectations for their child's care. Furthermore, after establishing clinical neurocritical care services, the program can strategically expand to encompass additional clinical pathways, comprehensive formal specialized training, and innovative research opportunities.

An estimated 10% of the population is born preterm. Seventy-five percent of preterm infants are born between 32 and 36 weeks' gestation and classified as moderate to late preterm (MLPT). MLPT infants historically have had less rigorous medical and developmental follow-up after hospital discharge than their extremely preterm peers. Increasing evidence shows these children to be at risk for developmental differences and disorders, behavioral and emotional differences, and a need for increased parenting support. In this review, we aim to examine the epidemiology of MLPT outcomes, the factors influencing their neonatal care that differ from those of their term and extremely preterm peers, and the neurodevelopmental and behavioral outcomes associated with MLPT birth.

Neonatal spinal cord injury is rare, and diagnosis is often delayed. The causes of spinal cord injury are quite broad including mechanical trauma, ischemia in the prenatal or perinatal period, iatrogenic causes, or other etiologies such as spinal abnormalities or neoplasms. The perinatal history and specific physical examination findings can suggest a diagnosis of neonatal spinal cord injury, which warrants confirmation by magnetic resonance imaging. Management involves supportive care and physical and occupational therapy. Early recognition is paramount to determine the specific cause, manage clinical complications, and prevent continued injury to the spinal cord. In this review, we provide 4 case examples that demonstrate the complex clinical presentations of neonatal spinal cord injury and, at times, the uncertainty of finding a specific mechanism of injury.