A5081909715- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Childhood Cancer Survivors' Quality of Life
- EEG and Brain-Computer Interfaces
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Innovations in Medical Education
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Infant Development and Preterm Care
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Cystic Fibrosis Research Advances
- Clinical Reasoning and Diagnostic Skills
- Infectious Encephalopathies and Encephalitis
- Genomic variations and chromosomal abnormalities
- Ethics and Legal Issues in Pediatric Healthcare
- Viral Infections and Immunology Research
- Ion Transport and Channel Regulation
- Optimism, Hope, and Well-being
- Healthcare Systems and Technology
- Drug Transport and Resistance Mechanisms
UNSW Sydney
2015-2024
Sydney Children's Hospital
2015-2024
Sydney Children’s Hospitals Network
2013-2023
Garvan Institute of Medical Research
2021
St Vincent's Clinic
2021
The University of Adelaide
2021
The University of Sydney
2021
Liverpool Hospital
2021
National Hospital for Neurology and Neurosurgery
2020
University College London
2020
Summary: Purpose : There is no adequate measure of health‐related quality life (HRQOL) specifically for children with epilepsy. The aim this study was to develop an epilepsy‐specific HRQOL questionnaire children, covering five domains: physical function, emotional well‐being, cognitive social and behavior. Second, we aimed demonstrate the instrument's reliability validity, its sensitivity differences in epilepsy severity. Methods subjects were guardians refractory epilepsy, whose syndrome...
Certain mutations can cause proteins to accumulate in neurons, leading neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration mice. therefore searched for human patients with PUM1 mutations. identified eleven individuals either deletions or de novo missense variants who suffer developmental syndrome (Pumilio1-associated disability,...
Abstract Background Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing gene panel testing improve diagnostic yield but there is no cost‐effectiveness analysis their use or consensus on how to best integrate these tests into pathways. Methods We conducted retrospective study comparing trio exome with standard approach, for well‐phenotyped cohort 32 patients epileptic...
<h3>Objective</h3> To assess the benefits and limitations of whole genome sequencing (WGS) compared to exome (ES) or multigene panel (MGP) in molecular diagnosis developmental epileptic encephalopathies (DEE). <h3>Methods</h3> We performed WGS 30 comprehensively phenotyped DEE patient trios that were undiagnosed after first-tier testing, including chromosomal microarray either research ES (n = 15) diagnostic MGP 15). <h3>Results</h3> Eight diagnoses made 15 individuals who received prior...
Summary: Purpose: To determine whether refractory epilepsy affects the health‐related quality of life (HRQOL) children with or without intellectual disability (ID), and if presence ID independently compromises HRQOL in epilepsy. Methods: Subjects were parents epilepsy, whose syndrome had been defined using ILAE (International League Against Epilepsy) criteria video‐EEG monitoring. Children absence determined by formal neuropsychological educational assessment. The relative effect on two...
Summary: Purpose: Benign rolandic epilepsy (BRE) has an excellent prognosis for seizures, but recent research raised concerns using cognition as outcome measure. Methodologic problems related to recruitment bias and assessment processes are evident in previous studies. With well‐defined criteria inclusion comprehensive assessment, the aim of this study was define cognitive profile children with BRE assess effect interictal EEG activity. Methods: Patients (n = 42) were recruited from six...
Summary: We reviewed the outcome of corpus callosal section in 64 adult and pediatric patients to identify factors associated with a good outcome: 48% had favorable for overall seizure frequency. Improvement was noted several types most likely drop attacks, particularly setting unilateral focal cerebral lesion or true generalized epilepsy Lennox‐Gastaut type. Poor outcomes attacks were more if there severe intellectual handicap bilateral independent spikes on interictal EEG. Complex partial...
For over two years, the global COVID-19 pandemic has forced major transformations on health, social, and educational systems, with concomitant impacts mental health. This study aimed to understand unique additional challenges faced by children chronic illness their families during era.Parents of receiving treatment for a within neurology, cancer, renal respiratory clinics Sydney Children's Hospital were invited participate. We used qualitative methodology, including semi-structured interview...
Summary: Purpose : Adult epilepsy studies have demonstrated cerebral and cerebellar volume reduction beyond the epileptogenic zone, correlating this with an inferior surgical outcome. We determined whether brain volumes were reduced in childhood significance of this. Methods Cerebral, cerebellar, hippocampal measured by quantitative magnetic resonance imaging on 112 children (ages 4–18) syndrome video‐EEG telemetry. Eighty‐seven had partial 25 generalized or indeterminate syndrome. Normative...
Siblings of young people with chronic illness commonly undertake caring responsibilities for their affected brother/sister, which may encourage maturation, yet also be perceived as a burden. Our study determined (1) siblings' responsibilities, (2) current emotional distress and psychosocial functioning, (3) how functioning related to familial relationships coping strategies. completed questionnaires contained Sibling Inventory Behavior, Differential Experiences, PedsQL, emotion thermometers,...
A distinctive pattern of enterovirus 71 (EV71) infection, characterized by fever, exanthem, acute pulmonary edema (PE), brainstem encephalitis, and flaccid paresis, affects infants young children. Most die rapidly owing to respiratory failure fulminant PE.The authors report short- long-term outcome six survivors the illness.In context PE widespread weakness, recognition underlying neurologic disorder was facilitated MRI signal abnormalities in posterior pons medulla. EV71-specific PCR...
A strain of Aspergillus fumigatus Fresenius, isolated from spoiled hay, converts melilotic acid (o-hydroxyphenylpropionic acid) and o-coumaric into 4-hydroxycoumarin dicoumarol. The sequence is shown to be (I) [Formula: see text] coumaric (IV) β-hydroxymelilotic (II) β-oxomelilotic (III) (VI), on the basis (1) studies formation postulated intermediates, (2) experiments with isotopically labelled materials (3) sequential enzyme induction. In presence semicarbazide, o-coumaraldehyde formed...
Aim To investigate the psychosocial impact of genetic testing for childhood‐onset developmental and epileptic encephalopathies (DEEs) in order to identify parents’ information support needs. Method In this mixed‐methods study, we conducted in‐depth semi‐structured interviews with parents ( n =25) children, recruited from Sydney Children’s Hospital Network, Australia, who had received testing. Thematic saturation was reached; were transcribed, deidentified, line‐by‐line coded, thematically...