Clinical inquiries. What are appropriate screening tests for infants and children?

Area of Science:

• Pediatrics
• Public Health
• Genetics

Background:

• Neonatal screening is crucial for early detection of serious childhood diseases.
• Established guidelines exist for several genetic and metabolic disorders.
• Screening for vision, tuberculosis, and lead toxicity is also recommended for specific pediatric populations.

Purpose of the Study:

• To summarize evidence-based recommendations for neonatal and pediatric screening tests.
• To provide guidance on the timing and frequency of recommended screening procedures.
• To highlight areas where consensus opinion informs screening protocols due to limited data.

Main Methods:

• Review of existing evidence for screening tests in neonates and young children.
• Categorization of screening tests based on strength of recommendation (SOR).
• Development of timing recommendations based on consensus for tests lacking robust data.

Main Results:

• Strong evidence (SOR: A) supports screening for hemoglobinopathies, congenital hypothyroidism, phenylketonuria, and cystic fibrosis (SOR: B).
• Vision screening is recommended for children under 5 years (SOR: B).
• High-risk children require tuberculosis (TB) and lead toxicity screening (SOR: B), with consensus-based timing starting at 9-12 months.

Conclusions:

• Neonatal screening for specific genetic and metabolic disorders is well-supported by evidence.
• Screening protocols for vision, TB, and lead toxicity are essential for high-risk children.
• Consensus-based timing recommendations are provided in the absence of extensive data, emphasizing the importance of timely interventions.