Psychological Consequences of Neonatal Screening for α1 Antitrypsin Deficiency (ATD)

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Abstract
The parents of 61 children with ATD typically attended repeated doctor''s appointments concerning the child''s ATD during the first years of life. Many (30-40%) of the parents felt somewhat relieved about the ATD after the first appointment. Parental attitudes toward the appointments varied considerably within the sample, being related to the physician''s reported knowledgeability-understandability regarding ATD and emotional supportiveness (toward mothers). Most parents were positive and few were negative toward the child''s ATD having been identified at this age. Repeated blood tests for the child''s liver function were experienced negatively by most parents. The parents'' recommendations concerning screening and followup of ATD in children are presented.