Question

EPIDEMIOLOGY

1) Interpretation of _________________ utilizes a fixed set of values.

2) Discuss one of the newborn screening tests required by the State of Ohio. Be sure to include why this screening is done.

Answer 1

1. Analysis of variance, or ANOVA

2. Newborn screening (NBS) for Krabbe’s disease (KD) required for the newborn screening test in Ohio state law. KD is both a leukodystrophy, affecting the white matter of the central and peripheral nervous systems, and a lysosomal storage disorder (LSD). The disease is caused by a deficiency of galactosylceramidase (GALC), and it primarily affects babies in their first year of life, with approximately 80–90% of patients having the severe infantile form of the disease. Although rare, there are cases of KD with symptoms appearing in early childhood, followed by rapid progression, leading to death within a year of the first symptoms.

Infants with early-infantile KD (EIKD) appear healthy at birth. However, pronounced irritability and twitching may appear soon thereafter; vomiting, feeding difficulties, and gastroesophageal reflux can also be present, starting within the first few weeks of life. Often, at this point, parents will seek primary medical care, and, frequently, diagnosis is delayed because symptoms are not pathognomonic and, thus, often are not initially attributed to KD. Regrettably, after a diagnosis of KD is confirmed, it may be too late for the currently available treatment, hematopoietic stem cell transplantation (HSCT), to reverse the neurologic damage caused by the disease because this treatment must be performed prior to the onset of clinical symptoms to be effective. Generally, the untreated child will not live past 2 years of age. Without a family history, NBS offers the only chance of identifying infants with KD prior to the onset of symptoms and is the only hope for life-saving treatment for the affected infant.

In addition to the low incidence and poor outcomes, Ohio families have been told that their child is at risk of developing KD. Advocates of NBS for KD have direct or indirect experience in having known a baby and family affected by KD; they know that KD is a dreadful disease, and the only hope for life-saving treatment is early detection through NBS. This is the reason why screening was now required in Illinois, New Jersey, Pennsylvania, New Mexico, Kentucky, Tennessee, and Ohio.