{
  "abstract": "Neurodevelopmental delay is a common clinical 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.",
  "authors": [
    {
      "affiliations": [
        "East and North Hertfordshire NHS Trust, Stevenage, UK"
      ],
      "name": "Frederica Sarantis"
    },
    {
      "affiliations": [
        "Paediatric Neurodisability, Cambridgeshire Community Services NHS Trust, Cambridge, UK"
      ],
      "name": "Francesca Seregni"
    },
    {
      "affiliations": [
        "Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK"
      ],
      "name": "Thiloka Ratnaike"
    },
    {
      "affiliations": [
        "Department of Pathology, University of Cambridge, Cambridge, UK",
        "Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Kate Baker"
    },
    {
      "affiliations": [
        "Biochemical Genetics Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Sarah L Hogg"
    },
    {
      "affiliations": [
        "Paediatrics, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, UK"
      ],
      "name": "Rachana Varma"
    },
    {
      "affiliations": [
        "Community Paediatrics, Cambridgeshire Community Services NHS Trust, Cambridge, UK"
      ],
      "name": "Gillian Mitchell"
    },
    {
      "affiliations": [
        "University of Cambridge Department of Clinical Neurosciences, University of Cambridge Department of Clinical Neurosciences, Cambridge, Cambridgeshire, UK"
      ],
      "name": "Jonathon A A Holland"
    }
  ],
  "title": "Fifteen-minute consultation: Early developmental impairment – an update on diagnostic tests",
  "uid": "0d842bcc-fd0d-5239-913b-38b9dcb0a4f1"
}