We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• January 2018

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. ...

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

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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

We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics. ...

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

There is no validated evidence base on predictive ability and absolute risk of preterm birth by gestational age of the previous pregnancy. We conducted a retrospective cohort study of mothers who gave birth to their first two children in New South Wales, 1994-2016. For each week of final gestational age of the first birth, we calculated relative and absolute risks of subsequent preterm birth. ...

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

Self-regulation is a modifiable protective factor for lifespan mental and physical health outcomes. Early caregiver-mediated interventions to promote infant and child regulatory outcomes prevent long-term developmental, emotional and behavioural difficulties and improve outcomes such as school readiness, educational achievement and economic success. To harness the population health promise of these programmes, there is a need for more nuanced understanding of the impact of these interventions. ...

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

Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. ...

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

We aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors). ...

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

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. ...

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

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• June 2015

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• May 2015

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome ...

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