Long-term effect of false-positive Pompe disease newborn screening on parenting

Newborn screening is a public health policy aims at reducing disability, severity of illness, or mortality of inborn errors of metabolism. After the success of the human genome project a few years ago, new science and technology allow more diseases to be screened at the newborn stage, like Pompe disease. The purpose of this study is to explore long-term effect of Pompe disease newborn screening on parenting. We conducted 19 questionnaires on the parents whose babies have experienced a false-positive Pompe disease screening (the study group). We also conducted 32 questionnaires on parents whose babies have a negative Pompe disease screening (the control group). We found that the total scores of "Parenting Stress", and "Parenting Sense of Competence" are not significantly different between the study group and the control group. There is significantly different between the study group and the control group in the total score of "Uncertainty of Illness". Among the nine sub-variables ("Lack of Information" , " Lack of Clarity", "Multiattributed Ambiguity", "Unpredictability", "Parental distress", " Parent-Child dysfunctional interaction", "Difficult Child", "Efficiency", and "Frustration"), we found that the scores of "Lack of Information" and " Lack of Clarity" sub-variable are higher in the control group than in the study group. This suggests that the study group is more uncertain about illness than the control group. This result is not related to whether the parents are "worried" or "not worried" about the screening result. But these parents, who expressed "worried" about the screening result during false positive event, are perceiving more parenting stress in " Parent-Child dysfunctional interaction" dimension than expressed "not worried" about the screening result.
One problem of the study is that the study group and the control group difference in both "family income" and "child age". We analyze these two items in respective to either the three main variables or the nine sub-variables by Pearson''s Correlation. We find that "Family income" is positive correlated with "Difficult Child". Among the three main variables, each one is significantly positively correlated to the other two variables, respectively. In conclusion, a false positive Pompe disease newborn screening does not affect parenting significantly in "Parenting Stress" and "Parenting Sense of Competence", but the significantly different in "Lack of Clarity" needs an attention. We need to be careful about delivering messages of newborn screening. Test instruction is very important, because the parents may face the fact having their children suffered from major illness. Service of genetic counseling is certainly needed.