Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits.

A prospective study of children with galactosaemia is being undertaken at the Metabolic Clinic, Royal Children's Hospital, Brisbane. The purpose of the study is to collect biochemical, clinical, dietary, developmental and speech and language data. This paper describes the operation of the multiprofessional management programme and reports results for two groups of children: those who were diagnosed before the introduction of neonatal screening in 1982 (the prescreening group) and those who were identified by screening. The eight children in the prescreening group have shown intellectual development in the low-average to moderately-handicapped range. Most of them have speech and language difficulties. The screening group, all of whom are still in infancy or early childhood, appears to be developing normally, with the exception of one child who is showing problems with speech and language. The early results provide a basis for cautious optimism that neonatal screening and careful management will result in improved outcomes for children with galactosaemia.