In routine workup for developmental delays, which test is included?

In routine workup for developmental delays, which test is included?

• A. Tests to detect urine and plasma amino acids
• B. Cystometrography
• C. Microscopic urinalysis
• D. Tests to detect serum antinuclear antibodies (ANAs)

Answer: (A)

Metabolic screening for inborn errors of metabolism is a key part of evaluating unexplained developmental delays. Some neurodevelopmental problems stem from amino acid disorders, which can be detected by measuring amino acids in both urine and plasma. Abnormal patterns point to specific conditions that, if identified early, may be treatable or influence management and prognosis. Because of this, testing for urine and plasma amino acids is routinely included in the workup. Other tests listed are not standard for this initial assessment: cystometrography assesses bladder function, microscopic urinalysis screens for infection or renal issues but doesn’t explain developmental delay, and tests for antinuclear antibodies screen for autoimmune disease, which is not a primary screen for developmental delay.

Metabolic screening for inborn errors of metabolism is a key part of evaluating unexplained developmental delays. Some neurodevelopmental problems stem from amino acid disorders, which can be detected by measuring amino acids in both urine and plasma. Abnormal patterns point to specific conditions that, if identified early, may be treatable or influence management and prognosis. Because of this, testing for urine and plasma amino acids is routinely included in the workup. Other tests listed are not standard for this initial assessment: cystometrography assesses bladder function, microscopic urinalysis screens for infection or renal issues but doesn’t explain developmental delay, and tests for antinuclear antibodies screen for autoimmune disease, which is not a primary screen for developmental delay.