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CDKL5 Publications

Publications from 2017 dating back to 2004 of CDKL5 researchers.

Our Research

We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

Clinical severity and X-chromosome inactivation

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Research

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

Research

The safety of seasonal influenza vaccines in Australian children in 2013

Our objective was to examine influenza vaccine safety in Australian children aged under 10 years in 2013.

Research

Early atherosclerosis relates to urinary albumin excretion and cardiovascular risk factors in adolescents with type 1 diabetes

Higher urinary albumin excretion, even within the normal range, is associated with early atherosclerosis

Research

Midwives' knowledge, attitudes and practice about alcohol exposure and the risk of fetal alcohol spectrum disorder

There is a need for further professional development for midwives on screening and brief intervention regarding alcohol consumption during pregnancy and FASD