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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital MicrocephalyThe recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
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The unmet clinical needs of children with developmental coordination disorderThe aim of this study was to understand the challenges experienced by families obtaining a diagnosis and therapy for developmental coordination disorder (DCD). Parents of 435 children aged 4-18 years with persistent motor difficulties consistent with a diagnosis of DCD completed an online survey. Diagnostic timeline and diagnostic label/s received were examined, along with therapies accessed.
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Pulmonary Gas Exchange Improves over the First Year in Preterm Infants with and without Bronchopulmonary DysplasiaRight shift of the peripheral oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (PIO2) curve is a sensitive marker of pulmonary gas exchange. The aim of this study was to assess the impact of prematurity and bronchopulmonary dysplasia (BPD) on gas exchange and right-to-left shunt in the neonatal period, and its evolution over the first year of life.
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Community Priority setting for Fetal Alcohol Spectrum Disorder Research in AustraliaIntroduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research.
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Dietary pattern trajectories across adolescence and early adulthood and their associations with childhood and parental factorsAlthough adolescent dietary patterns tend to be of poor quality, it is unclear whether dietary patterns established in adolescence persist into adulthood. We examined trajectories across adolescence and early adulthood for 2 major dietary patterns and their associations with childhood and parental factors. Using data from the Western Australian Pregnancy Cohort (Raine Study), intakes of 38 food groups were estimated at ages 14, 17, 20 and 22 y in 1414 participants using evaluated FFQs.
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Food Outlets Dietary Risk (FODR) assessment tool: study protocol for assessing the public health nutrition risks of community food environmentsAvailability and accessibility of nutritious foods can vary according to the food outlets present within a neighbourhood or community. There is increasing evidence that community food environments influence food choice.
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Borderline Personality Disorder and Peers: A Scoping Review of Friendship, Victimization and Aggression StudiesBorderline personality disorder (BPD) is characterized by instability in interpersonal relationships. To date no reviews have scoped the extant research on peer relationship functioning for young people diagnosed with BPD or showing borderline personality features. The current review provides this scoping of studies on all facets of peer relationships, including friendship quality, peer victimization and bullying and peer aggression, and relevant studies of social–cognitive processes with relevance to peer relationships. From 282 studies identified up to August 2019, 39 studies were included for review.
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Variation in nutrition education practices in SWEET pediatric diabetes centers-an international comparisonNutrition education is central to pediatric type 1 diabetes management. Dietary management guidelines for type 1 diabetes are evidence based, but implementation may be challenging and inconsistent. We describe variation in the practice of nutrition education across pediatric diabetes centers globally and explore associations with A1c and BMI.
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Talking skin: Attitudes and practices around skin infections, treatment options, and their clinical management in a remote region in Western AustraliaDocumenting carer, service provider and healthcare practitioner perspectives on skin infections provides more understanding of the context of treatment decisions