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Research
Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
People
Jess KeeleyWithin the Child Disability Team Jess has contributed to research that aims to improve understanding and measurement of the communication of people with CDKL5 Deficiency Disorder (CDD) by conducting and analysing interviews with families.
Research
We examined the impact of introducing a dedicated team to OPAT, to define the role of increased medical oversight in improving patient outcomes in this cohort.To evaluate the risk of stillbirth, PTB, and SGA as a proxy for FGR following exposure to one or more of these factors in a previous birth.
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Management of oral and dental problems in Rett syndrome: a narrative review of the literatureReview of the available dental literature on assessment and management of the oral manifestations of Rett syndrome
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New Opportunities for Evidence in Fetal Alcohol Spectrum DisorderRecent research, using objective 3-dimensional facial imaging, has found differences between the facial shape of individuals with FAS and the facial shape of individuals without FAS or with partial FAS
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A Comparison of Inertial Measurement Units and Overnight Videography to Assess Sleep BiomechanicsThe assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform.
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Psychosocial Interventions and Support Groups for Siblings of Individuals with Neurodevelopmental Conditions: A Mixed Methods Systematic Review of Sibling Self-reported Mental Health and Wellbeing OutcomesSiblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes.
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Health care utilization and costs for children and adults with duchenne muscular dystrophyThe annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
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A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth OutcomesInterpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants