We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• October 2011

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

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

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

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

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants ...

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

Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• May 2013

Publicly insured women usually have a different demographic background to privately insured women, which is related to poor neonatal outcomes after birth. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• February 2013

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• January 2012

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children; ...

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

Graham Shannon Stephen Hall Simpson Stick GL SS SM BAppSci PhD CRFS FANZSRS FThorSoc FERS BMedSci (hons), PhD MB BChir PhD MRCP FRACP Honorary Research Associate Co-Head, Children's Lung Health; Senior Research Fellow Head, P4 Respiratory Health for ...

• 1. Telethon Kids Institute
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