Screening the newborn for Duchenne muscular dystrophy: Parents' views

Abstract

Duchenne muscular dystrophy is a crippling, progressive, and ultimately fatal neuromuscular disease. It is inherited as an X linked recessive trait in two thirds of cases, the remainder being new mutations. Although the disease is present at birth, it is often not diagnosed until the boy is at least 4 or 5 years old. One of the diagnostic features of the disease is an extremely high serum creatine kinase activity. A sufficiently sensitive method of measuring this activity that is generally agreed to be suitable for use in neonatal screening for the disease is available. Pilot studies using this technique have been implemented in some countries, but ethical concerns have been expressed since there is no treatment that will benefit the sufferer. There is also concern regarding the psychological effects of early diagnosis. We asked parents of boys with the disease whether they were in favour of screening for the disease and, if they were, when they thought it should be carried out. Two important influences on how parents react to the diagnosis of a serious disease are the way in which they are told of the diagnosis and how they are supported subsequently. Our study disclosed dissatisfaction with both the points. Our findings mirror those of studies of other handicapping conditions, which consistently report that parents would prefer to be informed of the diagnosis as early as possible.