Paediatrics (RCH) - Theses
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ItemAttitudes towards newborn screening for Pompe disease among affected adults, family members and parents of ‘healthy’ children( 2009)Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage have led to the proposition of introducing newborn screening for Pompe disease. All forms of Pompe disease are caused by the same pathology, and thus newborn screening has the potential to identify those affected with the more severe infantile-onset form as well as those with late-onset disease who may not present with symptoms until late in life. The aim of this study was to investigate attitudes towards newborn screening for Pompe disease among affected adults, their family members and parents of ‘healthy’ children. Affected adults were recruited through support groups in Australia, the United Kingdom and United States; family members of affected adults were recruited from Australia; and parents of ‘healthy’ children were recruited through maternal child health clinics in Victoria, Australia. Participants completed questionnaires exploring their experiences of Pompe disease and/or newborn screening and their attitudes towards newborn screening for Pompe disease. Support for newborn screening for Pompe disease was high among adults with Pompe disease (85.4%), parents of ‘healthy’ children (93.9%) and all three family members of affected adults who participated in this study. However, when offered a theoretical screening test that would only identify infantile-onset Pompe disease, 42.1% of adults with Pompe disease and 53.1% of parents of ‘healthy’ children preferred this screen, indicating that these stakeholders have some concerns regarding detection of late-onset disease in infancy. Factors influencing attitudes were investigated and support for newborn screening in affected adults was highly correlated with age of onset of disease; a preference to have been diagnosed in infancy; a belief that an earlier diagnosis would have made symptoms easier to cope with; and a stronger confidence in the efficacy of enzyme replacement therapy. Potential benefits of diagnosis of late-onset disease in infancy were identified as being able to avoid the diagnosis odyssey, access enzyme replacement therapy at the optimal time, and allow individuals to make appropriate life choices. Participants identified increased anxiety in parents and the potential for over-protectiveness, in addition to possible discrimination, as harms of newborn screening for Pompe disease. Families in which an infant is identified with the potential for late-onset Pompe disease will need assistance to adapt to and manage this diagnosis, so that anxiety is minimised and unnecessary limitations are not placed on the child. Whilst potential medical and psychosocial benefits can result from newborn screening, it is important to carefully consider the potential for harm and the resources required to appropriately manage these so that ultimately benefit outweighs harm.