A5091178831- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Parkinson's Disease Mechanisms and Treatments
- Restless Legs Syndrome Research
- Gaze Tracking and Assistive Technology
- Electronic Health Records Systems
- Congenital heart defects research
- Neurobiology of Language and Bilingualism
- Family and Disability Support Research
- Neurological disorders and treatments
- Youth Substance Use and School Attendance
- Management and Organizational Studies
- Balance, Gait, and Falls Prevention
- Job Satisfaction and Organizational Behavior
- Food Allergy and Anaphylaxis Research
- Maternal Mental Health During Pregnancy and Postpartum
- Family Business Performance and Succession
- Attention Deficit Hyperactivity Disorder
- Dermatology and Skin Diseases
- Language Development and Disorders
- RNA modifications and cancer
- Allergic Rhinitis and Sensitization
- Child and Adolescent Psychosocial and Emotional Development
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Murdoch Children's Research Institute
2022-2025
Monash University
2023-2025
The University of Queensland
2019-2022
Centre Hospitalier Universitaire de Montpellier
2022
Hôpital d'Enfants
2022
Université de Bourgogne
2022
Hôpital Arnaud de Villeneuve
2022
Royal Brisbane and Women's Hospital
2021
Parenting Research Centre
2021
Abstract Oculomotor characteristics, including accuracy, timing, and sensorimotor processing, are considered sensitive intermediate phenotypes for understanding the etiology of neurodevelopmental conditions, such as autism ADHD. characteristics have predominantly been studied separately in Despite high rates co-occurrence between these only one study has investigated oculomotor processes among those with co-occurring + Four hundred five ( n = 405; 226 males) Australian children adolescents...
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling targeted therapies. Here, we characterized 38 female individuals, aged 1.69-24.34 years, pathogenic likely (missense, n = 13; nonsense, 12; frameshift, 7; splice site, 3; synonymous, 2; deletion, 1). Standardized speech, language, motor, social, adaptive behavior...
Abstract Aim To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome‐specific or transdiagnostic approaches provide a better understanding behavioural phenotypes these NDDs. Method This cross‐sectional study included parents and caregivers 243 (48% female) individuals (age range = 1–25 years; mean 8 years 10 months, SD 5 months) genetically confirmed NDDs ( CDK13 , DYRK1A FOXP2 KAT6A KANSL1 SETBP1 BRPF1 DDX3X )....
A short period of eye-tracking can produce large amounts data, making analysis challenging, particularly for clinical applications. Automated methods extracting basic oculomotor features saccades, fixation, or blinking are available. For more in-depth analysis, manual cleaning and processing is often required. This time-consuming variable across individuals over time, which limits scalability utility, even if identified markers have high potential significance. Automation provides an...
Anxiety is a major complication in Parkinson's disease (PD). Many PD patients experience clinically significant anxiety not meeting Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) disorder criteria. This atypical (anxiety otherwise specified [NOS]) often under-recognized its diagnosis underdeveloped.This study aimed to identify the demographic, psychiatric, clinical characteristics NOS PD.A cross-sectional design studied convenience sample 184 without dementia recruited from...
Abstract Objective To evaluate the efficacy and costs of a brief, group-delivered parenting intervention for families children with eczema. Methods A randomized controlled trial design was used. Families attending Queensland Children’s Hospital from community (n = 257) were assessed eligibility (child 2–10 years, diagnosed eczema, prescribed topical corticosteroids). who consented to participate (N 59) at baseline clinician-rated eczema severity, parent-reported symptom...
A short period of eye-tracking can produce large amounts data, making analysis challenging, particularly for clinical applications. Automated methods extracting basic oculomotor features saccades, fixation, or blinking are available. For more in-depth analysis, manual cleaning and processing is often required. This time-consuming variable across individuals over time, which limits scalability utility, even if identified markers have high potential significance. Automation provides an...
GenIDA is an international participatory registry (https://genida.unistra.fr/) aimed at better characterizing the clinical manifestations and natural history of genetic forms intellectual disability (ID) with or without autism spectrum disorder (ASD) epilepsy.
A short period of eye-tracking can produce large amounts data, making analysis challenging, particularly for clinical applications. Automated methods extracting basic oculomotor features saccades, fixation, or blinking are available. For more in-depth analysis, manual cleaning and processing is often required. This time-consuming variable across individuals over time, which limits scalability utility, even if identified markers have high potential significance. Automation provides an...
This study uses phenomenography as a qualitative methodology within sensemaking approach to investigate how employees experience unanticipated organisational leadership change in small firms, and it is applied an empirical of management Australian Small Medium-sized Enterprises (SMEs). In-depth interviews 24 across 8 different SMEs elicited employees’ varied experiences aspects such transparency, supportive communication, affective responses self-identity. In particular, the findings reveal...
Abstract Speech and language impairments are central features of CDK13 -related disorder. While pathogenic variants have been associated with childhood apraxia speech (CAS), a systematic characterisation communication has not conducted. Here we examined speech, language, non-verbal skills, social behaviour health development in 41 individuals CDK-13 related disorder (male = 22, median-age 7 years 1 month, range 1–25 years; 33 novel). Most participants used augmentative alternative (AAC)...