The objective of this study was to investigate whether maternal coffee and/or tea consumption during the last 6 months of pregnancy was associated with risk... ...

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

The Australian Study of Causes of Acute Lymphoblastic Leukemia in Children (Aus-ALL) was designed to test the hypothesis, raised by a previous Western Australia ...

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

To identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• March 2024

The rapid increase in mobile phone use in young people has generated concern about possible health effects of exposure to radiofrequency (RF) and extremely... ...

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

In this case-control study of CBT, the possible associations of childhood intake of dietary and supplemental folate, vitamin B6, and vitamin B12 with the... ...

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

The generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors... ...

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

It has been 10 years since we carried out a systematic search of the literature on birth defect risk in infants born following assisted reproductive... ...

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

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation. ...

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

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

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

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

Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. ...

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