Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.  ...

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

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep. ...

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

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities. ...

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

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and... ...

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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

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

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome ...

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

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

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

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

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

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

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

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

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

Developmental Coordination Disorder is a lifelong disability impacting most aspects of daily living that involve movement. With an estimated prevalence of ~5% of children, the disorder affects an average of one to two children in every Australian classroom. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Amy Juliet Vincent Keerthi Professor Catherine Finlay-Jones Brook Mancini Kottampally Elliott AFJ JB VOM KK CE BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BBiomedSci PhD (Clinical Psychology) Bsc (Hons), GradDipPsych(Adv) PhD, BSc ...

• 1. Telethon Kids Institute
• Projects