On genotyping and phenotyping in pediatric neurology. The role of whole exome sequencing in a tertiary setting for pediatric neurology and the relevance of careful clinical phenotyping

Wednesday 27 September 2023, 10:30 am
PhD student
J.H. Schieving drs.
prof. dr. M.A.A.P. Willemsen, prof. dr. L.E.L.M. Vissers

An important part of a pediatric neurologist's work is making an accurate diagnosis in children with for example developmental delays, problems with movement and/or seizures. Starting point for making a correct diagnosis is a proper history taking and a careful neurological examination. Additional tests may be used, such as an MRI scan, blood tests, a muscle biopsy or DNA testing.

Making a correct diagnosis is not easy, and the tests are often stressful for the child and involve high costs. Nevertheless, a large proportion of children fail to be diagnosed. Therefore, there is a need for new examination techniques.

With our research we have shown that the new genetic technique "whole exome sequencing" is more often able to make a correct diagnosis, in a more child-friendly and cost-effective way. In children where it is not possible to reach a diagnosis, it is worthwhile to repeat this method after a few years.

Jolanda Schieving has been a pediatric neurologist at Amalia Children's Hospital/Radboudumc since 2008. As a pediatric neurologist, she sees children with a variety of pediatric neurological problems and has specific expertise in children with movement disorders (such as ataxia, dystonia and spasticity) and children with a genetic cause of their neurological disorder, including children with Cowden syndrome/PHTS and children with a so-called neurocutaneous disorder such as neurofibromatosis. This also prompted the initiation and conduct of her research and led to this dissertation.

In addition, Jolanda is an enthusiastic teacher, educational coordinator and trainer in pediatric neurology. With her website www.kinderneurologie.eu (over 400,000 visitors per month), she tries to provide families with a child with a pediatric neurological disorder and their caregivers and therapists with easily understandable information about the often rare disorder in order to contribute to the most optimal care for these children.