Genetics of hereditary neurological disorders in children
Yue Huang1, Sui Yu1, Zhanhe Wu1
11 Neuroscience Research Australia & the University of New South Wales, NSW, 2031, Australia ; 2 Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia ; 3 Cytogenetics Department, Western Sydney Genetics Program, Children's Hospital at Westmead, NSW, 2145, Australia ; 4 Department of Neurology, Xiangya Hospital, Central South University & National Laboratory of Medical Genetics of China, Changsha 410000, China.
Abstract:
Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.
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