A5031346515- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Balance, Gait, and Falls Prevention
- Attention Deficit Hyperactivity Disorder
- Neurobiology of Language and Bilingualism
- Cerebral Palsy and Movement Disorders
- Injury Epidemiology and Prevention
- Dementia and Cognitive Impairment Research
- Education, Achievement, and Giftedness
- Child Development and Digital Technology
- Genetic Neurodegenerative Diseases
- Neuroscience of respiration and sleep
- Vestibular and auditory disorders
- Infant Development and Preterm Care
- Assistive Technology in Communication and Mobility
- Family and Disability Support Research
- Hearing, Cochlea, Tinnitus, Genetics
- Cognitive Functions and Memory
- Genetic Syndromes and Imprinting
- Reading and Literacy Development
- Diabetic Foot Ulcer Assessment and Management
- RNA regulation and disease
The University of Melbourne
2015-2025
Murdoch Children's Research Institute
2016-2025
Royal Children's Hospital
2018-2022
Monash University
2013-2018
Victorian Clinical Genetics Services
2016-2018
Despite their widespread use in research and clinical practice, the cognitive abilities purportedly assessed by different verbal fluency task variants remain unclear may vary across healthy populations. The overarching aim of this study was to identify which contribute phonemic, semantic, excluded letter, alternating tasks whether these contributions differ younger older adults. Method: Ninety-six (18–36 years) 83 (65–87 participants completed measures estimated intelligence, semantic...
Objective: Wearable technology has potential benefits for clinical measurement with children who have neurodevelopmental disorders (NDDs). However, this cohort may experience sensory processing disorder, behavioral dysregulation, and cognitive challenges. For effective considerate implementation, the experiences views of parents NDDs on topic need in-depth investigation. Method: This qualitative semi-structured interview study used purposeful sampling families wearable in a research setting....
Fragile X Mental Retardation 1 ( FMR1 ) premutation carriers (PM‐carriers) have a defective trinucleotide expansion on the gene that is associated with continuum of neuropsychological and mental disorders. Currently, little known about distinct subcomponents executive function potentially impaired in female PM‐carriers, there been no investigations into associations between incidences A total 35 PM‐carriers confirmed by Asuragen triple primed PCR DNA testing age‐ intelligence‐matched...
Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with CGG expansion, termed full mutation (FM: ≥ 200), increased DNA methylation the FMR1 promoter silencing gene. Mosaicism for presence cells either methylated FM or smaller unmethylated pre-mutation (PM: 55–199) alleles in same individual have been better cognitive functioning. This study compares age- sex-matched FM-only PM/FM mosaic individuals...
Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it caused by loss the
Numerous variants of verbal fluency tasks exist within clinical and research domains that purport to measure "executive function." However, date, there has been a paucity examining what specific abilities are measured by these tasks. In this study, the relationships between select group cognitive constructs phonemic, semantic, alternating, excluded-letter tests were examined in 93 young healthy individuals (aged 18 35 years old). Forward-selection multiple regression analyses performed for...
To examine the epigenetic basis of psychiatric symptoms and dysexecutive impairments in FMR1 premutation (PM: 55 to 199 CGG repeats) women.A total 35 PM women aged between 22 years age- IQ-matched controls (CGG <45) participated this study. All participants completed a range executive function tests self-reported disorders. The molecular measures included DNA methylation CpG island blood, presented as activation ratio (AR), 9 sites located at exon1/intron 1 boundary, size, mRNA levels.We...
Abstract DNA methylation of the Fragile X mental retardation 1 ( FMR1 ) exon 1/intron boundary has been associated with executive dysfunction in female carriers a premutation (PM: 55–199 CGG repeats), whereas neuroanatomical changes have PM males. To our knowledge, this study for first time examined inter-relationships between function, structure and molecular measures (DNA mRNA levels blood) control (<44 repeats) females. In group, intron was positively function cortical thickness middle...
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility the X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) newly created dried (DBS) from 65 children FXS (~2–17 years). A further 168 NBS infants general population were used to establish control...
Abstract Background Prader–Willi syndrome (PWS) and Angelman (AS) are neurodevelopmental disorders in need of innovative ‘real‐world’ outcome measures to evaluate treatment effects. Instrumented gait analysis (IGA) using wearable technology offers a potentially feasible solution measure “real‐world’ neurological motor dysfunction these groups. Methods Children (50% female; 6–16 years) diagnosed with PWS ( n = 9) AS 5) completed IGA assessments the Physilog®5 wearable. participants laboratory...
This study examines implicit sequence learning impairments that may indicate at-risk cerebellar profiles proposed to underlie some aspects of subtle cognitive and affective dysfunctions found among female fragile X mental retardation 1 (FMR1) premutation (PM)-carriers. A total 34 PM-carriers 33 age- intelligence-matched controls completed an symbolically primed serial reaction time task (SRTT) previously shown be sensitive involvement. Implicit scores indicated a preservation in both groups;...
Abstract Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and decrease in FMR1 mRNA its protein. However, incomplete silencing from FM alleles has been associated more severe autism features FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-C FX ) 62 males affected (3 to 32 years) stratified based presence or absence of mosaicism and/or silencing. Associations between ABC-C subscales...