The goal was to examine the associations between dose, pattern, and timing of prenatal alcohol exposure (PAE) and birth defects. ...

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

Tumors have evolved multiple mechanisms to evade immune destruction. One of these is expression of T cell inhibitory ligands such as programmed death... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• December 2009

Antibiotic exposure before or during pregnancy was associated with increased risk of childhood hospitalized infections ...

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

Nutrition in early childhood may have a long-term association with fundamental cognitive processing speed, which is likely to be related to enhanced brain... ...

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

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

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

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

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

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

We now have a growing number of epigenetic alterations in disease, and this offers a chance to increase sensitivity and specificity of future diagnostics and therapies ...

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

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

This paper explains advances in extracting linked health data from the WA Data Linkage Branch ...

• 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