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We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.
The development of research partnerships is a priority for InterRett, with centres or clinicians with access to large numbers of patients with Rett syndrome.
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Pineal morphology of the clinical high-risk state for psychosis and different psychotic disordersPineal volume reductions have been reported in schizophrenia and clinical high-risk states for the development of psychosis, supporting the role of melatonin dysregulation in the pathophysiology of psychosis.
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Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication DatabaseSince the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).
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Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing SymptomsTo investigate the genetic architecture of internalizing symptoms in childhood and adolescence.
We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.
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Validation of a rapid, saliva-based, and ultra-sensitive SARS-CoV-2 screening system for pandemic-scale infection surveillanceWithout any realistic prospect of comprehensive global vaccine coverage and lasting immunity, control of pandemics such as COVID-19 will require implementation of large-scale, rapid identification and isolation of infectious individuals to limit further transmission. Here, we describe an automated, high-throughput integrated screening platform, incorporating saliva-based loop-mediated isothermal amplification (LAMP) technology, that is designed for population-scale sensitive detection of infectious carriers of SARS-CoV-2 RNA.
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Complications associated with paediatric airway management during the COVID-19 pandemic: an international, multicentre, observational studyRespiratory adverse events in adults with COVID-19 undergoing general anaesthesia can be life-threatening. However, there remains a knowledge gap about respiratory adverse events in children with COVID-19. We created an international observational registry to collect airway management outcomes in children with COVID-19 who were having a general anaesthetic.
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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Transfers of disadvantage across three generations using latent class associations within familiesThere is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time.
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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndromeRett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.
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SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair ModulationCystic fibrosis (CF), due to pathogenic variants in CFTR gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same CFTR variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria Pseudomonas aeruginosa.
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Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trialTo evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
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Quality of life in paediatric burn patients with non-severe burnsBurns are common worldwide, and the vast majority are non-severe burns of less than 20% of the total body surface area (TBSA). In Australia, paediatric burns account for a third of all burn admissions, thus understanding the quality-of-life outcomes after a non-severe burn in children is important.
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Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and ProfessionalsThis study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
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Anti-Müllerian hormone concentration is associated with central adiposity and reproductive hormones in expectant fathersThe role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers.
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Botrytis cinerea Loss and Restoration of Virulence during In Vitro Culture Follows Flux in Global DNA MethylationPathogenic fungi can lose virulence after protracted periods of culture, but little is known of the underlying mechanisms. Here, we present the first analysis of DNA methylation flux at a single-base resolution for the plant pathogen B. cinerea and identify differentially methylated genes/genomic regions associated with virulence erosion during in vitro culture.
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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
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Orthopaedic issues in Rett SyndromeThis chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.