Behavioural difficulty, chronic disability, and learning problems represent a significant part of the workload of community-based general paediatricians. Appropriate exposure during paediatric training should be given to these issues along with more sophisticated training in the medical, social and psychological complications of chronic illness and its effect on clients and families.
Ongoing training and upgrading in acute paediatric diagnostic and procedural skills, rationalization of resuscitation expertise, training in management and administrative skills and models of care for the chronically ill should become part of the training of community-based general paediatricians.
A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene showed compound heterozygosity; 1 allele contained a pseudogene sequence (gene conversion) and the other contained a previously described I172N point mutation. On theoretical grounds, the genotype would have been expected to cause simple virilizing congenital adrenal hyperplasia but, because no other cause of death could be found, it is possible that it caused a fatally severe loss of enzyme activity in this child. If this assumption is valid, newborn screening would have prevented this death, had it been available.
thirds of those on their list each year7 (though probably a smaller proportion of those at highest risk) such advice given carefully to every patient might also greatly reduce the spread of HIV in the population. There remains a need for evaluating the most effective ways in which this can be done. Nevertheless, the matter is so urgent that this need must not be used as an excuse for inaction.We thank Dr P Anderson and Dr R Mayon-White from the department of community medicine, Oxfordshire Health Authority, for allowing us to base our questionnaire on theirs. We also thank Dr
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