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Publications from 2017 dating back to 2004 of CDKL5 researchers.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
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.
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.
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.
Research
Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
Research
The impact of influenza infection on young children, their family and the health care systemInfluenza infection in young children has a significant impact on medication use, absenteeism and the use of health care service
Research
Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
Research
Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention CenterAccurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention