Newborn Screening: Opportunities for Prevention of Developmental Disabilities

1. Newborn Screening: Opportunities for Prevention of Developmental Disabilities Melissa Ewerth Graduate Adapted Physical Education, WCU

2. What is a Screening Test? • Screening Test: A test that is designed to screen for a specific condition. • Screening tests separate individuals who are at risk for a condition from those who are not. • All screening tests produce false positive results, and some produce false negative results.

3. Diagnostic Testing • Diagnostic Test: Specifically used to confirm or deny a specific disease or condition in an individual. • Diagnostic tests should not give false positive or false negative results, and they are known as the ideal screening tests.

4. History of Screening Newborns • First successful screening took place in Massachusetts in 1962 for PKU. • The expansion of newborn screening began in 1975 when the test for congenital hypothyroidism. • Currently, there are 400,000 newborns screened each year in the United States.

5. Screening Newborns The American Academy of Pediatrics (AAP) issued a report recommending the following criteria for newborn screening. • The condition should be an important health matter that occurs frequently enough to validate screening an entire population. • The treatment for the condition being screened should be available to all newborns, accepted by health care professionals, and effective when used early on in life. • The screening test should be safe, acceptable, precise, and validated.

6. Newborn Screening Categories • Endocrine Disorders • Lung Disorders • Blood Disorders • Infectious Diseases • Metabolic Disorders

7. How are Newborns Screened? The majority of newborn screening tests are done by taking blood. • Blood sample is taken by heal prick and blotted onto filter paper. • Sample taken after 24 hours of age. • Filter paper is dried and sent to the screening lab.

8. How are Newborns Screened? • The Tandem Mass Spectrometer (MS/MS) gives a quick and sensitive method for mass screening. • Single sample screened in 1-2 minutes. • Numerous disorders are screened. • The use of this device has been able to increase the amount of newborns diagnosed.

9. Failed Newborn Screening • Newborn screening is not always accurate. • Specimen taken at the wrong time. • Newborn blood transfusions give false negatives for certain disorders. • Weather conditions during shipment of specimen. • Not all newborns are screened.

10. Positive Newborn Screens When a newborn has a positive screen, the following steps should be taken: • Notification of the family and primary care physician. • Further evaluation • Treatment when acceptable

11. Did You Know? • Many positive screens turn out to be false. • For every 10 newborns that test positively, only one will actually have the disease. • Mothers of false positive infants have increased stress levels. • Mothers of false-positive infants have an increased chance of parent-child dysfunction.

12. Follow-Up Testing • Follow-up testing methods will differ based on the disorder and the method used for the first screening. • An abnormal first screening will be sent back to the same lab for a follow-up screening

13. Newborns with Confirmed Disease • Positively screened newborns are sent to a physician specializing in their disorder. • Access to nurses, counselors, social workers, and nutritionists is often provided to the family. • Additional testing is used to provide further resources.

14. Risks of Developmental Disability Several studies have produced results of developmental outcomes for individuals with metabolic disorders. • Children diagnosed as newborns had fewer developmental delays than those who were diagnosed later. • These children also had fewer hospital visits and higher scores on standardized testing.

15. Useful Teacher Information • Students screened positively at birth will often have additional resources provided to them to help with their condition. • Be aware of these resources. • Work with the family and outside sources to accommodate the student. • Know your students • A student diagnosed at birth is more likely to function better than a student diagnosed later in life. • Never assume that two students with the same condition will be the same!

16. Conclusion • Newborn screening tests are important to help recognize the risk of both medical and genetic conditions. • Newborn screening tests are used for a variety of things. • Prenatal Screening • Mass newborn screening • Targeted Screening • Diseases and conditions screened for has grown and will continue to grow

17. Contact Melissa Ewerth- ME796843@wcupa.edu