Department of Neurology

Child neurologists care for children with neurological conditions including epilepsy, brain tumours, and weakness (arising from nerve and muscle disorders) from birth until adulthood. These may lead to significant disability and limitation of independence. We integrate our research with clinical care of children and aim to improve diagnosis and management for many children and their families.

Our clinical research covers topics ranging from normal physiology, understanding and measuring disease severity, applying innovative genetic technologies to improve diagnosis, improve best practice, develop new treatments and translating this into practice.

Our team are passionate about providing children with neurological disorders access to cutting-edge therapies through an extensive clinical trials program, in conjunction with the Clinical Research Centre at Sydney Children’s Hospital (Randwick). Through our involvement in clinical trials, we have contributed to major breakthroughs in the treatment of disorders such as Spinal Muscular Atrophy, refractory epilepsy and Tuberous Sclerosis Complex.

Research interests

Our research program covers a wide range of neurological and neuromuscular disorders, and involves partnerships with multiple local, state, national and international collaborators.  Our goal is to translate the latest research into practice, providing children and young people with the best possible care.

Neuromuscular disorders

• Mechanisms and possible prevention of neurodegeneration in spinal muscular atrophy and other inherited neuropathies
• Development of next generation sequencing to improve diagnostic approaches in neurological disorders, in collaboration with the Centre for Clinical Genetics
• Clinical trials investigating potential drug treatments to improve management of neuromuscular diseases

Refractory epilepsy

• Out-of-hospital use of midazolam for emergency management of seizures
• Efficacy of ketogenic diet for intractable epilepsy
• Clinical trials and compassionate access schemes, including Cannabidiol for Intractable Epilepsy (GWEP 1521)

Developmental and Epileptic encephalopathy (DEE) – a joint clinical research initiative of the Department of Neurology and the Centre for Clinical Genetics (CoGENES)

• Identification and characterisation of novel genetic causes of DEE by whole genome sequencing, in collaboration with the Kinghorn Centre for Clinical Genomics (KCCG), Garvan Institute and other national and international clinical research teams
• Evaluation of the diagnostic yield and cost-effectiveness of different genomic platforms for the diagnosis of DEE, in collaboration with SEALS Genetic Laboratory, the KCCG, Garvan Institue, and Professor Deborah Schofield, Centre for Economic Impacts of Genomic Medicine, Macquarie University
• Evaluation of the information and support needs of parents of children with a genetic, or suspected genetic, form of epilepsy. This project is in collaboration with Professor Claire Wakefield, Behavioural Sciences Unit, and Professor Kristine Barlow-Stewart, University of Sydney
• A precision medicine approach to genetic epilepsy: the genetic epilepsy BioResource
• Evaluation of new information and support resources for epilepsy under banner of PENNSW and CoGENES Family days, with series of quality review projects

Chemotherapy-induced neuropathy

• Extent and impact of peripheral nerve injury in childhood cancer survivors treated with chemotherapy
• Mechanisms of chemotherapy-induced peripheral nerve damage and potential prevention
• Use of sensitive analytical techniques, such as nerve excitability studies

Tuberous Sclerosis Complex (TSC)

• Growth patterns and neurological outcome of patients with congenital subependymal giant cell astrocytoma (SEGA)
• Identifying TSC neuroradiological markers for epilepsy and cognitive outcomes
• Identifying mosaic variants in tuberous sclerosis complex and other mTOR-1 signalling pathway conditions

Education - Development and published evaluations of the following education resources

• Website for epilepsy education of clinicians and families (www.pennsw.org.au) 
• Smartphone and Tablet App to educate adolescents and families, including medication reminders, seizure tracker and mental health supports
• E-learning package for clinicians on the approach to and management of First Seizures
• Adolescent Epilepsy Clinic aimed at successful transition
• Beyond milestones (4 hour teaching modules to aid learning of normal childhood development) 

Key publications

'Beyond Milestones': A Randomised Controlled Trial Evaluating an Innovative Digital Resource Teaching Quality Observation of Normal Child Development, Connolly AM, Cunningham C, Sinclair AJ, Rao A, Lonergan A, Bye AME, 2014, Journal of Paediatrics & Child Health, vol 50, pp. 393 - 398

Implementing a new adolescent epilepsy service: Improving patient experience and readiness for transition, Fleur A Le Marne, Susan J Towns, Gaskin C, Ho J, Baker R, Beavis E, Bye AM, 2018, DOI:10.1111/jpc.14301

A paediatric epilepsy website supporting clinicians and families in caring for children and adolescents with epilepsy, Connolly AM, Slade R, Uppal P, Bye AME, 2014, Journal of Clinical Neuroscience, vol 21, pp. 1831 - 1832

The First Unprovoked seizure: Validation of a newly developed E-Learning resource, Fleur A Le Marne, McGinness H, Slade R, Cardamone M, Singh SB, Connolly AM, Bye AME, 2016, Journal of Paediatrics and Child Health, vol 9, pp. 896 - 900

The research team

Department of Neurology - Sydney Children's Hospitals Network (Randwick Campus)

	A/Prof Annie Bye, Head of Department Annie has an extensive portfolio of research into paediatric epilepsy, which has recently involved new generation sequencing in epileptic encephalopathies.  Her other research interests include neonatal seizures, semiology of seizures, neuropsychological and language profiles in paediatric epilepsy, MRI correlates of seizures, quality of life in paediatric epilepsy, teaching undergraduate and junior medical staff paediatric epilepsy and epilepsy education for adolescents with epilepsy. For more information, please see Annie’s UNSW profile page.
	A/Prof Michelle Farrar, Director of Neuromuscular Services Michelle is a paediatric neurologist and consultant neurophysiologist at Sydney Children’s Hospital, and senior lecturer at the School of Women’s and Children’s Health, University of New South Wales.  Her research focuses on neuromuscular diseases in children, to further understand and measure disease progression with clinical and neurophysiological assessments, improve management and facilitate clinical trial readiness. She is actively involved in clinical trials, and has been instrumental in the recent breakthroughs in the treatment of Spinal Muscular Atrophy. For more information please see Michelle’s UNSW profile page.
	Dr John Lawson John is a paediatric neurologist and epileptologist at the Sydney Children’s Hospital, Randwick, and Conjoint Senior Lecturer at the University of NSW. He has an extensive portfolio of research into paediatric epilepsy and neurology, and is a Chief Investigator of the NSW paediatric epilepsy medicinal cannabis trial. His interests include enhancing the diagnosis and management of children with epilepsy and tuberous sclerosis.  For more information please see John’s UNSW profile page.

	Dr Michael Cardamone  Michael is a paediatric neurologist at Sydney Children’s Hospital and has a joint faculty appointment at the School of Children’s and Women’s Health, UNSW Medicine.  His current research interests are in epilepsy, ketogenic diet, metabolic and biochemical disorders affecting the central nervous system.
	Dr Ian Andrews                     Ian is a senior neurologist at Sydney Children’s Hospital.  During his training in the 1990s, he developed clinical and research expertise in the then-emerging field of neuroimmunology, with particular interests in myasthenia gravis, Rasmussen’s encephalitis and other immune-mediated encephalitides.  He has maintained an ongoing interest in neuroimmunology, facilitated by supportive collaboration with Professor Russell Dale and the Kids Neuroscience Centre, and he has developed a growing interest in paediatric stroke and headache disorders.
	Dr Hugo Sampaio Hugo is a paediatric neurologist and a lead clinician at the neuromuscular clinic at the Sydney Children's Hospital. His interest in neuromuscular medicine focuses on clinical management and optimisation of patient function, including treatment with novel therapies through his involvement in clinical trials.

	Dr Sekhar Pillai                     Sekhar is a dual qualified paediatric neurologist and paediatrician. During his paediatric neurology training, he commenced his postgraduate research into the causes and outcome of acute infectious and autoimmune encephalitis with Professor Russell Dale at the University of Sydney.  His research into childhood encephalitis has provided information regarding the relative frequency of infectious and autoimmune encephalitis in children. He is currently interested in developing the expertise in encephalitis at the Sydney Children’s Hospital in collaboration with the University of New South Wales and associated research laboratories.
	Dr Alexandra Johnson Alex is a paediatric neurologist, with research spanning a range of neurological disorders in children and young adults, including headache, brain tumours and epilepsy. She currently works in a number of centres including Sydney Children’s Hospital, Liverpool Hospital and Royal North Shore Hospital. For more information please see Alexandra’s UNSW profile page.
	Dr Tejaswi Kandula                   Tej is a paediatric neurologist with a special interest in researching peripheral neuropathy in childhood cancer survivors. This research involves a combination of clinical, electrophysiological and functional tests, and aims to understand the mechanism by which chemotherapy damages peripheral nerves.  She is also interested in the neurogenetics of childhood epilepsies, such as epileptic encephalopathy.

Dr Hooi Ling Teoh Hooi is dual qualified in paediatric neurology and general paediatrics and interested in general neurology. She has completed a Masters of Clinical Research in the use of next generation sequencing in the diagnosis of lower motor neurone disorders in young people. She is also interested in novel therapies in spinal muscular atrophy through involvement in clinical trials.

PhD candidates

Dr Elizabeth Emma Palmer

Emma is a Clinical Geneticist with the State-wide Genetics of Learning Disability Service (GOLD), diagnosing the cause of inherited intellectual disability and counselling families. She is a Conjoint Lecturer and PhD student at the University of New South Wales investigating the application of genomics for severe epilepsy and intellectual disability. For more information please see Emma’s UNSW profile page.

Dr Didu (Sandi) Kariyawasam

Sandi is a PhD candidate at the University of New South Wales examining the longitudinal course of children undergoing novel therapies with underlying neuromuscular disease. She was a previous fellow in paediatric neurology at Sydney Children’s Hospital

Suzanne Nevin

Research Assistant embarking on PhD in collaboration with Genetics, Neurology and Behavioual Sciences.  The project centres around impact of a genetic diagnosis for families of children with epilepsy and development of information and strategies to improve holistic and multi-disciplinary management. 

Masters Candidates

Dr Denise Chan

Denise is a paediatric neurology fellow at Sydney Children’s Hospital / Children’s Hospital at Westmead. She is currently researching neuroimaging markers in paediatric Tuberous Sclerosis Complex (TSC). Her research aims to identify and examine patterns in MRIs of children with TSC, and to ascertain whether these patterns correlate with future neurological or developmental outcomes.

Dr Kerrie-Anne Chen

Kerrie-Anne trained at Sydney Children’s Hospital. She is a paediatric neurologist investigating the clinical translation of novel drugs for rare neurological diseases, including novel treatments for paediatric neurological disorders such as refractory epilepsy and SMA.

Dr Preena Uppal

Dr Preena Uppal is a pediatric neurologist. She holds dual qualifications as a specialist in both General Paediatrics and Paediatric Neurology. Dr Uppal was previously a neurology and epilepsy  fellow at Sydney Children’s Hospital. She has a special interest in epilepsy and neurodevelopmental disorders. She is a part of the NSW Acute Seizure Management committee and has co-authored the state seizure management guidelines. She is completing her masters investigating status epilepticus and super-refractory epilepsy.