To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia. Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database. ...

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

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

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

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• May 2014

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

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

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school... ...

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

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• August 2007

Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups ...

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

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome ...

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

Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 946 +614 3387 0544 helen.leonard@telethonkids.org.au mohammed.junaid@telethonkids.org.au Principal ...

• 1. Telethon Kids Institute
• Projects

Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

• 1. Telethon Kids Institute
• Projects

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. ...

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

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. ...

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