Search
Showing results for "Au"
Research
The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
News & Events
New Study ‘Plugs’ Digital Intervention for Perinatal Mental HealthNew Study ‘Plugs’ Digital Intervention for Perinatal Mental Health
The ORIGINS Community Wellbeing during COVID-19 Project is investigating the impact of the COVID-19 pandemic on emotional wellbeing, family functioning and perceived stress on families.
Research
Genetic association study of childhood aggression across raters, instruments, and ageChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap.
Research
Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndromeBehavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.
Research
Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and ValidityWearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics.
Research
Early Years and Disadvantage: Matching Developmental Circumstances in Populations to Prevention and Intervention OpportunitiesIn this chapter we use rich longitudinal data to examine the typical growth of vocabulary in children as they age from 4 years onwards.