Abstract:
Objective: To describe and analyze the utilization and costs of hospital services for children
diagnosed with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) either by
newborn screening or clinical diagnosis in Australia between 1994 and 2002. MCADD is a
potentially lethal disorder of fatty-acid oxidation.
Study design: Retrospective audit of medical records supplemented by parental survey.
Results: A total of 59 children with MCADD were identified, 24 by newborn screening. In
the first four years of life, screened children cost an average of $A1676 ($US1297) per year
for inpatient, ED and outpatient attendances compared to $A1796 ($US1390) for clinically diagnosed
children. Forty-two percent of screened children were admitted to hospital
compared to 71% of unscreened children. Unscreened children used significantly more
inpatient services and cost significantly more in terms of emergency services. There were
also some significant differences in utilization on a year-by-year basis.
Conclusions: Unscreened children may be more likely to be admitted to hospital and to incur
higher emergency department costs than screened children, while screened children seem
more likely to attend hospital outpatient clinics. Screening does not result in higher costs
from a hospital perspective.
