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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.
Research
Contemporary pathways to adolescent pregnancy in Indonesia: A qualitative investigation with adolescent girls in West Java and Central SulawesiIn the last decade, reduction in adolescent fertility rates in Indonesia has slowed despite national programmes and policies focused on addressing child marriage. Indonesia currently has the highest number of births to adolescent girls aged 15-19 years in Southeast Asia. There is a need to develop a more nuanced understanding of the drivers of adolescent pregnancy in Indonesia to inform programmes and policies tailored to young people's needs and priorities.
Research
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulationAtopic dermatitis is a common inflammatory skin condition and prior genome-wide association studies have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date combining previously reported cohorts with additional available data.
Research
Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testingThis study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning.
Research
Economic burden of multidrug-resistant tuberculosis on patients and households: a global systematic review and meta-analysisMultidrug-resistant tuberculosis (MDR-TB) is a major health threat worldwide, causing a significant economic burden to patients and their families. Due to the longer duration of treatment and expensive second-line medicine, the economic burden of MDR-TB is assumed to be higher than drug-susceptible TB.
Research
Neonatal sepsis and cardiovascular dysfunction I: mechanisms and pathophysiologyThe highest incidence of sepsis across all age groups occurs in neonates leading to substantial mortality and morbidity. Cardiovascular dysfunction frequently complicates neonatal sepsis including biventricular systolic and/or diastolic dysfunction, vasoregulatory failure, and pulmonary arterial hypertension.