Neuro-developmental delay is a common clinic presentation to Paediatricians. For some children, there may be an immediately recognisable likely cause, such as a severe perinatal infection or hypoxia. For others, the cause may not be obvious, leaving open questions of recurrence risk, developmental prognosis, expected medical and mental health needs, and optimal management. Although some children will remain undiagnosed, many will have an underlying genetic diagnosis. In this article we highlight recent advances in the investigation of children with developmental delay with a particular focus on genomics. We advocate performing next-generation sequencing-based tests as a first line investigation, alongside basic biochemical and metabolic tests, with an aim for greater equity of testing and more rapid diagnosis.
Sarantis et al. (Tue,) studied this question.