To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand. ...

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

Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs. ...

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

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. ...

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

Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades. ...

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

Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

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

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.  ...

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

Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder for autistic individuals with significant motor problems. ...

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

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. ...

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

PURPOSE: To develop a consensus statement for the prescription of a Powered Wheelchair Standing Device (PWSD) in young people with Duchenne muscular dystrophy (DMD). MATERIALS AND METHODS: An international multidisciplinary panel comprising clinicians and users (young people with DMD) along with their parents was consulted. A literature review was undertaken and a Delphi method was utilised to generate consensus statements. ...

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

This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

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