Vitamin D deficiency (serum 25-hydroxyvitamin D (25(OH)D) concentration <50 nmol/l) is recognised as a public health problem globally. The present study details the prevalence and predictors of vitamin D deficiency in a nationally representative sample (n 3250) of Australian Aboriginal and Torres Strait Islander adults aged ≥18 years. We used data from the 2012-2013 Australian Aboriginal and Torres Strait Islander Health Survey (AATSIHS). Serum 25(OH)D concentrations were measured by liquid chromatography-tandem MS. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

Glenn Jonathan Katharine Rosemary Pearson Carapetis AM Noonan Wyber G JR KN R BA (Education) PhD Candidate AM MBBS FRACP FAFPHM PhD FAHMS MBBS (Hons) MSc MBChB MPH FRACGP PhD Director of First Nations Strategy and Leadership Executive Director; ...

• 1. Telethon Kids Institute
• Projects

Keely Amy Tim Bebbington Finlay-Jones Jones KB AFJ TW MClinPsych/PhD BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MBBS DCH FRACP MD McCusker Postdoctoral Research Fellow in Type 1 Diabetes Head, Early Neurodevelopment & Mental ...

• 1. Telethon Kids Institute
• Projects

Francis Glenn Steve Sarah Mitrou Pearson Zubrick Johnson FG G SR SJ BEc BA (Education) PhD Candidate FASSA, FAAMHS, MSc AM PhD BA, PostGradDip; PhD Program Head, Population Health, and Team Head, Human Development and Community Wellbeing Director of ...

• 1. Telethon Kids Institute
• Projects
• The ARC Centre of Excellence for Children and Families over the Life Course

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

Epidemiologic data on invasive group C/G Streptococcus (iGCGS) infections are sparse internationally. Linked population-level hospital, pathology, and death data were used to describe the disease burden in Western Australia, Australia, during 2000-2018 compared with that of invasive group A Streptococcus (GAS, Streptococcus pyogenes) infections. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• November 2022

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• October 2016