Neonatal alpha(1)-antitrypsin screening: parents' views and reactions 20 years after the identification of the deficiency state

During 1972-74, 200 000 Swedish neonates were screened for al-antitrypsin d eficiency (alpha(1)ATD). The parents of the 22-23-y-old alpha(1)ATD childre n were asked about their views on the screening study, information and foll ow-up of their children as well as physical and psychosomatic problems, whi ch were compared with a matched control (MC) group. Of the original 122 alp ha(1)ATD and MC parents, 85 alpha(1)ATD and 89 MC parents decided to partic ipate. The neonatal period was considered the best time for screening by 88 % of the responding parents. The care of the alpha(1)ATD individuals was as sessed as positive or very positive by 84% of the parents. About 70% of the parents thought that the awareness of their child's alpha(1)ATD had affect ed their lives, the most common comment being an increased consciousness of smoky and dusty environments. No significant difference between alpha(1)AT D and control parents was found concerning worry about the child's health a nd future. When asked about symptoms related to their mental health, no dif ference was found concerning headache, sleep problems, stomach troubles or tiredness. alpha(1)ATD mothers had statistically significantly more anxiety than control mothers (chi(2) p < 0.01, Wilcoxon p < 0.02). The knowledge d erived from the present and previous parts of the alpha(1)AT screening stud y is important with regard to presymptomatic testing for adult-onset diseas e in children.