Diagnosis of developmental delay: the geneticists approach

Abstract

Of the 2% of children with developmental delay, perhaps half have an underlying genetic basis for this, although in some this will be due to altered gene expression in only some cells. In some there will be identifiable single genes at fault with predictable inheritance patterns, others may have recognizable chromosome anomalies, but for 2/3 a diagnosis may remain obscure. While for the paediatrician or geneticist the lack of diagnosis may appear as 'failure', contrasting with other diagnostic 'successes', this need not necessarily be the view of the parents. The first approach to 'delay' is to explore whether the parents also recognize that their child has a problem, and if so whether they would welcome a 'label' for this or not. The second rule is to avoid offering a diagnosis unless one is certain; the removal of a 'label' particularly if this destroys a previous nurtured identity with a particular support group can be similarly traumatic.